Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life

Thrombosis and Haemostasis

Volumn 109, Issue 4, 2013, Pages 766-768

  Lowe, Gillian C ^a   Guiu, Isabel Sánchez ^a,b   Chapman, Oliver ^c   Rivera, José ^b   Lordkipanidzé, Marie ^a   Dovlatova, Natalia ^a,d   Wilde, Jonathan ^e   Watson, Steve P ^a   Morgan, Neil V ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF MURCIA   (Spain)

^c UNIVERSITY HOSPITALS COVENTRY AND WARWICKSHIRE NHS TRUST   (United Kingdom)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^e UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; DYSBINDIN; TRANEXAMIC ACID;

AGED; BLEEDING TENDENCY; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HPS7 GENE; HUMAN; HYPOPIGMENTATION; LETTER; MICROSATELLITE MARKER; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON; THROMBOCYTE FUNCTION; THROMBOCYTE RICH PLASMA;

AGED; BLOOD COAGULATION; CARRIER PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HERMANSKI-PUDLAK SYNDROME; HUMANS; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; SKIN PIGMENTATION;

EID: 84875941591     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-11-0876     Document Type: Letter

References (11)

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