Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations-Reference-Cited by-同舟云学术

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Published:1998-06 Issue:2 Volume:64 Page:99-107
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Shotelersuk Vorasuk,Hazelwood Senator,Larson David,Iwata Fumino,Kaiser-Kupfer Muriel I.,Kuehl Ernest,Bernardini Isa,Gahl William A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies;Hermansky;Blood,1959

2. Witkop, C, J, Quevedo, W, C, Fitzpatrick, T, B, King, R, A, Albinism, The Metabolic Basis of Inherited Disease, 2, New York, McGraw–Hill, 1989, 2905, 2947

3. Hermansky–Pudlak Syndrome: Ophthalmic findings;Summers;Ophthalmology,1988

4. King, R, A, Hearing, V, J, Creel, D, J, Oetting, W, S, Albinism, The Metabolic and Molecular Bases of Inherited Disease, Scriver, C, RBeaudet, A, LSly, W, SValle, D, L, 3, New York, McGraw–Hill, 1995, 4353, 4392

5. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky–Pudlak syndrome;Witkop;Am J Hematol,1987

Cited by 52 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. Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene;Frontiers in Genetics;2022-08-15

2. Genetic analyses of Vietnamese patients with oculocutaneous albinism;Journal of Clinical Laboratory Analysis;2022-07-23

3. Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism;Journal of Clinical Laboratory Analysis;2020-10-30

4. ALBINISM;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

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