A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome

Published:2016-12-04 Issue:5 Volume:64 Page:e26320
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Andres Oliver¹,Wiegering Verena¹,König Eva-Maria²,Schneider Anna Lena³,Semeniak Daniela⁴,Stritt Simon⁴,Klopocki Eva²,Schulze Harald⁴

Affiliation:

1. University Children's Hospital Würzburg; University of Würzburg; Germany

2. Institute of Human Genetics, Biocentre; University of Würzburg; Germany

3. Department of Ophthalmology; University Hospital Würzburg; Germany

4. Institute of Experimental Biomedicine I; University Hospital Würzburg; Germany

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

2. The ophthalmic presentation of Hermansky-Pudlak syndrome 6;Hull;Br J Ophthalmol.

3. Albinism in Europe;Martinez-Garcia;J Dermatol,2013

4. Melanocytes and their diseases;Yamaguchi;Cold Spring Harb Perspect Med,2014

Cited by 10 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. Novel Variants of <i>HPS6</i> Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of <i>HPS6</i> Variants;Ophthalmic Research;2023-12-13

2. State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders;Hämostaseologie;2023-08

3. Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism;Life;2021-12-23

4. Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs;Genes;2021-07-19

5. Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction;Hämostaseologie;2020-09-15

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3