Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)-Reference-Cited by-同舟云学术

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Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

Published:2010-05 Issue:03 Volume:222 Page:168-174
ISSN:0300-8630
Container-title:Klinische Pädiatrie
language:de
Short-container-title:Klin Padiatr

Author:

Sandrock K.,Bartsch I.,Rombach N.,Schmidt K.,Nakamura L.,Hainmann I.,Busse A.,Zieger B.

Publisher

Georg Thieme Verlag KG

Subject

Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0030-1249628.pdf

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies;Cells;2021-10-01

2. Hermansky–Pudlak syndrome: Mutation update;Human Mutation;2020-01-23

3. Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3;Platelets;2019-12-27

4. A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4;Blood Cells, Molecules, and Diseases;2018-03

5. Novel mutation in two brothers with Hermansky Pudlak syndrome type 3;Blood Cells, Molecules, and Diseases;2017-09

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