A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5

European Journal of Haematology

Volumn 80, Issue 4, 2008, Pages 356-360

  Korswagen, Lindy Anne ^a   Huizing, Marjan ^b   Simsek, Suat ^a   Janssen, Jeroen J W M ^a   Zweegman, Sonja ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Albinism; Hermansky Pudlak syndrome; Mutation analysis; Platelet dysfunction

Indexed keywords

ADULT; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CLINICAL FEATURE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; OCULAR ALBINISM; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VISUAL ACUITY;

ADULT; BASE SEQUENCE; CARRIER PROTEINS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MUTATION; TURKEY;

EID: 40449087968     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.01024.x     Document Type: Article

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