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Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

作者信息

Yousaf Sairah, Shahzad Mohsin, Kausar Tasleem, Sheikh Shakeel A, Tariq Nabeela, Shabbir Asra S, Ali Muhammad, Waryah Ali M, Shaikh Rehan S, Riazuddin Saima, Ahmed Zubair M

机构信息

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Institute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.

出版信息

Pigment Cell Melanoma Res. 2016 Mar;29(2):231-5. doi: 10.1111/pcmr.12438. Epub 2015 Dec 18.

DOI:10.1111/pcmr.12438
PMID:26575419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5062593/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd3d/5062593/3b0e4398a6ac/nihms820368f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd3d/5062593/3b0e4398a6ac/nihms820368f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd3d/5062593/3b0e4398a6ac/nihms820368f1.jpg

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本文引用的文献

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J Dermatol. 2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025.
2
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.Hermansky-Pudlak 综合征：色素和非色素缺陷及其发病机制。
Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31.
3
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.BLOC-3 突变导致 Hermansky-Pudlak 综合征，是一种 Rab32/38 鸟嘌呤核苷酸交换因子。
一个 BLOC1S6 基因的新型缺失与 Hermansky-Pudlak 综合征 9 型（HPS-9）相关。
BMC Genomics. 2024 Aug 27;25(1):805. doi: 10.1186/s12864-024-10478-w.
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BMC Ophthalmol. 2024 Aug 14;24(1):345. doi: 10.1186/s12886-024-03611-6.
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Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.使用临床基因组资源基因注释框架评估与止血和血栓形成相关基因的临床有效性。
J Thromb Haemost. 2024 Mar;22(3):645-665. doi: 10.1016/j.jtha.2023.11.011. Epub 2023 Nov 26.
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