Human genetics. Supplement最新文献

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Pseudocholinesterase variation. Pseudocholinesterase变异。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_7
H W Goedde, D P Agarwal
{"title":"Pseudocholinesterase variation.","authors":"H W Goedde, D P Agarwal","doi":"10.1007/978-3-642-67179-1_7","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_7","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"45-55"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Alcohol and alcoholism. 酒精和酗酒。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_14
P Propping
{"title":"Alcohol and alcoholism.","authors":"P Propping","doi":"10.1007/978-3-642-67179-1_14","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_14","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"91-9"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-3-642-67179-1_14","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Human biochemical genetics of plasma dopamine-beta-hydroxylase and erythrocyte catechol-o-methyltransferase. 血浆多巴胺- β -羟化酶和红细胞儿茶酚-o-甲基转移酶的人类生化遗传学。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_15
R M Weinshilboum
{"title":"Human biochemical genetics of plasma dopamine-beta-hydroxylase and erythrocyte catechol-o-methyltransferase.","authors":"R M Weinshilboum","doi":"10.1007/978-3-642-67179-1_15","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_15","url":null,"abstract":"<p><p>The purpose of the studies reviewed here was to investigate the role of inheritance in the regulation of human plasma dopamine-beta-hydroxylase (DBH) and human erythrocyte (RBC) catechol-O-methyltransferase (COMT) activities. DBH is a catecholamine biosynthetic enzyme and COMT is catecholamine metabolic enzyme. It has been suggested that the level of the activities of these enzymes in human blood might reflect the function or status of the adrenergic nervous system. Both enzyme activities were measured in blood samples from large, randomly selected populations of children, adolescents, and adults, and in the blood of first-degree relatives of subjects with either very low plasma DBH activity (less than 50 U/ml) or very low RBC COMT activity (less than 8U/ml). A radioimmunoassay for human plasma DBH was also used in these studies. The results of sibship and pedigree analyses of data from families of probands with very low enzyme activities were compatible with the autosomal recessive inheritance of an allele for very low plasma DBH activity that results in a decrease in DBH protein in plasma, and the autosomal recessive inheritance of an allele for low erythrocyte COMT activity.</p>","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"101-12"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
Multifactorial inheritance and heritability in pharmacogenetics. 药物遗传学中的多因子遗传和遗传力。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_2
A G Motulsky
{"title":"Multifactorial inheritance and heritability in pharmacogenetics.","authors":"A G Motulsky","doi":"10.1007/978-3-642-67179-1_2","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_2","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"7-11"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Drug sensitivity in hereditary hepatic porphyria. 遗传性肝性卟啉症的药物敏感性。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_11
U A Meyer
{"title":"Drug sensitivity in hereditary hepatic porphyria.","authors":"U A Meyer","doi":"10.1007/978-3-642-67179-1_11","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_11","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"71-8"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-3-642-67179-1_11","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Intestinal lactase polymorphisms and dairy foods. 肠道乳糖酶多态性与乳制品。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_16
T Sahi
{"title":"Intestinal lactase polymorphisms and dairy foods.","authors":"T Sahi","doi":"10.1007/978-3-642-67179-1_16","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_16","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"115-23"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11327004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Assets and limitations of animal models. 动物模型的优点和局限性。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_12
W Kalow
{"title":"Assets and limitations of animal models.","authors":"W Kalow","doi":"10.1007/978-3-642-67179-1_12","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_12","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"79-80"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Ecogenetics: a view from the U.S. President's Science Advisory office. 生态遗传学:来自美国总统科学顾问办公室的观点。
Human genetics. Supplement Pub Date : 1978-01-01
G S Omenn
{"title":"Ecogenetics: a view from the U.S. President's Science Advisory office.","authors":"G S Omenn","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"179-84"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Malignant hyperthermia. 恶性高热。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_10
W Kalow
{"title":"Malignant hyperthermia.","authors":"W Kalow","doi":"10.1007/978-3-642-67179-1_10","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_10","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"69-70"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Search for single gene effects in multifactorial inheritance in pharmacogenetics. 药物遗传学中多因子遗传中单基因效应的研究。
Human genetics. Supplement Pub Date : 1978-01-01 DOI: 10.1007/978-3-642-67179-1_5
W Kalow
{"title":"Search for single gene effects in multifactorial inheritance in pharmacogenetics.","authors":"W Kalow","doi":"10.1007/978-3-642-67179-1_5","DOIUrl":"https://doi.org/10.1007/978-3-642-67179-1_5","url":null,"abstract":"","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":" 1","pages":"31-4"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11498292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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