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[Albinism].
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本文引用的文献

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NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.基于二代测序的100基因低色素沉着检测面板可鉴定中国Hermansky-Pudlak综合征患者的突变。
Pigment Cell Melanoma Res. 2016 Nov;29(6):702-706. doi: 10.1111/pcmr.12534. Epub 2016 Oct 19.
2
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.
3
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.中文患者的二基因遗传性眼皮肤白化病的遗传分析。
Chin Med J (Engl). 2013 Jan;126(2):226-30.
4
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.实施针对中国眼皮肤白化病患者的基因检测优化策略。
J Dermatol Sci. 2011 May;62(2):124-7. doi: 10.1016/j.jdermsci.2011.02.009. Epub 2011 Mar 5.
5
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.遗传性疾病的拷贝数变异与临床细胞遗传学诊断
Nat Genet. 2007 Jul;39(7 Suppl):S48-54. doi: 10.1038/ng2092.
6
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.通过多重连接依赖探针扩增对40个核酸序列进行相对定量分析。
Nucleic Acids Res. 2002 Jun 15;30(12):e57. doi: 10.1093/nar/gnf056.
7
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.小鼠p(粉红眼稀释)基因和人类P基因、2型眼皮肤白化病(OCA2)以及黑素小体pH值。
Pigment Cell Res. 2001 Apr;14(2):86-93. doi: 10.1034/j.1600-0749.2001.140203.x.
8
Albinism: modern molecular diagnosis.白化病:现代分子诊断
Br J Ophthalmol. 1998 Feb;82(2):189-95. doi: 10.1136/bjo.82.2.189.

Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism.

作者信息

Zhang Ying-Zi, Bai Da-Yong, Qi Zhan, Zhao Su-Zhou, Yang Xiu-Min, Li Wei, Wei Ai-Hua

机构信息

Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

Shunyi Women and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China.

出版信息

Chin Med J (Engl). 2019 Aug 20;132(16):2011-2012. doi: 10.1097/CM9.0000000000000356.

DOI:10.1097/CM9.0000000000000356
PMID:31356463
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6708679/
Abstract
摘要