一名混合表型 ATTRv 患者的双重致病变体。

IF 5.2 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-05-16 DOI:10.1080/13506129.2024.2346536

Maria Ausilia Sciarrone, Rosa Lillo, Angela Romano, Francesca Vitali, Valeria Guglielmino, Maria Chiara Meucci, Francesca Graziani, Marco Luigetti

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Double pathogenic variant in an ATTRv patient with mixed phenotype.

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来源期刊

Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学

CiteScore

10.60

自引率

10.90%

发文量

审稿时长

6-12 weeks

期刊介绍： Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.