Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

Blood

Volumn 121, Issue 22, 2013, Pages e138-e148

  Chandrasekharappa, Settara C ^a   Lach, Francis P ^b   Kimble, Danielle C ^a   Kamat, Aparna ^a   Teer, Jamie K ^a,c   Donovan, Frank X ^a   Flynn, Elizabeth ^a   Sen, Shurjo K ^a   Thongthip, Supawat ^b   Sanborn, Erica ^b   Smogorzewska, Agata ^b   Auerbach, Arleen D ^b   Ostrander, Elaine A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP B PROTEIN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA GROUP C1 PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA GROUP F PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; FANCONI ANEMIA GROUP J PROTEIN; FANCONI ANEMIA GROUP L PROTEIN; FANCONI ANEMIA PROTEIN; UNCLASSIFIED DRUG; BACH1 PROTEIN, HUMAN; BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; FANCA PROTEIN, HUMAN; FANCB PROTEIN, HUMAN; FANCC PROTEIN, HUMAN; FANCD2 PROTEIN, HUMAN; FANCG PROTEIN, HUMAN; FANCI PROTEIN, HUMAN; FANCL PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FANCONI ANEMIA; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; GERMLINE MUTATION; HUMAN; INTRON; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; RNA SEQUENCE; RNA SPLICING; SPLICING DEFECT; WHOLE EXOME SEQUENCING; ETHNOLOGY; FAMILY HEALTH; GENETICS; JEW; METHODOLOGY; MUTATION; SEQUENCE ANALYSIS;

BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HEALTH; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP G PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP L PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENE DELETION; GENE DUPLICATION; HUMANS; JEWS; MUTATION; SEQUENCE ANALYSIS, RNA;

MLCS; MLOWN;

EID: 84880828017     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-12-474585     Document Type: Article

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