Exome sequencing identifies MPL as a causative gene in familial Aplastic anemia

Haematologica

Volumn 97, Issue 4, 2012, Pages 524-528

  Walne, Amanda J ^a   Dokal, Arran ^a   Plagnol, Vincent ^b   Beswick, Richard ^a   Kirwan, Michael ^a   de la Fuente, Josu ^c   Vulliamy, Tom ^a   Dokal, Inderjeet ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Aplastic anemia; Exome sequencing; MPL

Indexed keywords

THROMBOPOIETIN RECEPTOR;

ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXOME; FANCONI ANEMIA; GENE SEQUENCE; GENETIC SCREENING; HEMATOPOIESIS; HOMOZYGOSITY; HUMAN; INFANT; MICROSATELLITE MARKER; MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; NONSENSE MUTATION; ONCOGENE; PRESCHOOL CHILD; TELOMERE; THROMBOCYTOPENIA;

ANEMIA, APLASTIC; CHILD, PRESCHOOL; CONSANGUINITY; EXOME; FAMILY; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; RECEPTORS, THROMBOPOIETIN; SEQUENCE ANALYSIS, DNA; TELOMERE;

EID: 84859469338     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.052787     Document Type: Article

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