在非哈特派人群中扩展与相关肌病的临床和突变谱。 - Suppr

Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population.

作者信息

Johnson Katherine, De Ridder Willem, Töpf Ana, Bertoli Marta, Phillips Lauren, De Jonghe Peter, Baets Jonathan, Deconinck Tine, Rakocevic Stojanovic Vidosava, Perić Stojan, Durmus Hacer, Jamal-Omidi Shirin, Nafissi Shahriar, Mongini Tiziana, Łusakowska Anna, Busby Mark, Miller James, Norwood Fiona, Hudson Judith, Barresi Rita, Lek Monkol, MacArthur Daniel G, Straub Volker

机构信息

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.

出版信息

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19.

DOI:10.1136/jnnp-2018-318288

PMID:29921608

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6581110/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64a5/6581110/360e1c0a26f9/jnnp-2018-318288f01.jpg

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

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Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population.

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