Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

Haematologica

Volumn 99, Issue 7, 2014, Pages

  Collopy, Laura C ^a   Walne, Amanda J ^a   Vulliamy, Tom J ^a   Dokal, Inderjeet S ^a,b  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BARTS HEALTH NHS TRUST   (United Kingdom)

Author keywords

Aplastic anemia; Bone marrow failure genes; SLX4 variants; Targeted resequencing

Indexed keywords

BRCA2 PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; NUCLEAR PROTEIN; RIBOSOMAL PROTEIN L5; TELOMERASE REVERSE TRANSCRIPTASE; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; RECOMBINASE; SLX4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; APLASTIC ANEMIA; BARTH SYNDROME; BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; CHILD; CLINICAL ARTICLE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA REPAIR; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; FANCONI ANEMIA; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INFANT; LETTER; POLYMERASE CHAIN REACTION; QUANTITATIVE POLYMERASE CHAIN REACTION; SEVERE CONGENITAL NEUTROPENIA; SHWACHMAN SYNDROME; SLX4 GENE; TELOMERE HOMEOSTASIS; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; ANEMIA, APLASTIC; COMPLICATION; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HEMOGLOBINURIA, PAROXYSMAL;

ANEMIA, APLASTIC; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; RECOMBINASES; SEQUENCE ANALYSIS, DNA;

EID: 84903559951     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.105320     Document Type: Letter

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