Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

Haematologica

Volumn 95, Issue 2, 2010, Pages 333-337

  Wenham, Matt ^a,b   Grieve, Samantha ^a   Cummins, Michelle ^c   Jones, Matthew L ^d   Booth, Sarah ^b,e   Kilner, Rachel ^b   Ancliff, Philip J ^f   Griffiths, Gillian M ^a,b   Mumford, Andrew D ^d  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d UNIVERSITY OF BRISTOL   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

AP3B1; Hermansky Pudlak syndrome; Mutations

Indexed keywords

BETA ADAPTIN; CD63 ANTIGEN;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MALE; NEUTROPENIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; THROMBOCYTE AGGREGATION; THROMBOCYTE DYSFUNCTION;

ADAPTOR PROTEIN COMPLEX 3; ADAPTOR PROTEIN COMPLEX BETA SUBUNITS; ALBINISM, OCULOCUTANEOUS; CHILD; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PLATELET FUNCTION TESTS; T-LYMPHOCYTES, CYTOTOXIC;

EID: 76549129327     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.012286     Document Type: Article

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