在一名患有舍格伦-拉松综合征的韩国男孩中鉴定出ALDH3A2基因的纯合可能致病变异体。 - Suppr

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超能文献

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

作者信息

Kim Je Yeon, Kim Shin Hye, Park Mi Jung, Kim Soung Hee, Cho Woo Ho, Choi Jin, Ki Chang Seok, You Su Jeong

机构信息

Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2018 Jan;38(1):80-82. doi: 10.3343/alm.2018.38.1.80.

DOI:10.3343/alm.2018.38.1.80

PMID:29071827

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5700155/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb99/5700155/e1ef714d4486/alm-38-80-g001.jpg

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引用本文的文献

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本文引用的文献

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.InterVar：依据2015年美国医学遗传学与基因组学学会（ACMG）-分子病理学协会（AMP）指南对基因变异进行临床解读

Am J Hum Genet. 2017 Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004. Epub 2017 Jan 26.

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

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.舍格伦-拉松综合征：脂肪醛脱氢酶缺乏症的分子遗传学与生化发病机制

Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22.

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.与干燥综合征 - 拉松综合征中脂肪醛脱氢酶活性缺乏相关的青少年黄斑营养不良。

Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6.

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

J Invest Dermatol. 2000 May;114(5):1065-6. doi: 10.1046/j.1523-1747.2000.00960-5.x.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.舍格伦-拉松综合征的分子基础：脂肪醛脱氢酶基因的突变分析

Am J Hum Genet. 1999 Dec;65(6):1547-60. doi: 10.1086/302681.

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