更正:由 COL4A3 剪接变异导致的缓慢进展型常染色体显性阿尔波特综合征。

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Sergio Daga, Lorenzo Loberti, Giulia Rollo, Loredaria Adamo, Olga Lorenza Colavecchio, Giulia Brunelli, Kristina Zguro, Sergio Antonio Tripodi, Andrea Guarnieri, Guido Garosi, Romina D'Aurizio, Francesca Ariani, Rossella Tita, Alessandra Renieri, Anna Maria Pinto
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引用次数: 0

摘要

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Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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