Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity-Reference-Cited by-同舟云学术

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Published:1998-03 Issue:3 Volume:62 Page:593-598
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Oh Jangsuk,Ho Lingling,Ala-Mello Sirpa,Amato Dominick,Armstrong Linda,Bellucci Sylvia,Carakushansky Gerson,Ellis Julia P.,Fong Chin-To,Green Jane S.,Heon Elise,Legius Eric,Levin Alex V.,Nieuwenhuis H. Karel,Pinckers A.,Tamura Naoaki,Whiteford Margo L.,Yamasaki Hisato,Spritz Richard A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene;Bailin;J Invest Dermatol,1997

2. Genetics, development, and malignancy of melanocytes;Bennett;Int Rev Cytol,1993

3. β-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects;Cheng;Proc Natl Acad Sci USA,1984

4. Oculocutaneous albinism and bruising in two sisters—probably Hermansky-Pudlak syndrome;Ellis;J R Soc Med,1995

Cited by 147 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. Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population;Clinica Chimica Acta;2024-07

2. Interdisciplinary approach to diagnosis of life-threatening form of albinism: Germanic-Pudlac syndrome case type 1;Archives of Pediatrics and Pediatric Surgery;2024-03-26

3. Reduced myeloid commitment and increased uptake by macrophages of stem cell–derived HPS2 neutrophils;Life Science Alliance;2024-01-18

4. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

5. High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis;Blood Advances;2023-10-13