Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Blood

Volumn 124, Issue 1, 2014, Pages 24-32

  Mirabello, Lisa ^a   Macari, Elizabeth R ^b   Jessop, Lea ^a   Ellis, Steven R ^c   Myers, Timothy ^a   Giri, Neelam ^a   Taylor, Alison M ^b   McGrath, Katherine E ^b   Humphries, Jessica M ^b   Ballew, Bari J ^a   Yeager, Meredith ^d   Boland, Joseph F ^d   He, Ji ^d   Hicks, Belynda D ^d   Burdett, Laurie ^d   Alter, Blanche P ^a   Zon, Leonard ^b,e   Savage, Sharon A ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c UNIVERSITY OF LOUISVILLE   (United States)

^d FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; RIBOSOME PROTEIN; RIBOSOME PROTEIN S29; RIBOSOME RNA; UNCLASSIFIED DRUG; RIBOSOMAL PROTEIN S29;

AMINO ACID SUBSTITUTION; ANEMIA; ANIMAL EXPERIMENT; ARTICLE; BLACKFAN DIAMOND ANEMIA; CONTROLLED STUDY; ERYTHROPOIESIS; EXOME; EXON; FEMALE; GENE SEQUENCE; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HUMAN; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RIBOSOME SUBUNIT; WILD TYPE; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; CHILD; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION;

AGE OF ONSET; AMINO ACID SEQUENCE; ANEMIA, DIAMOND-BLACKFAN; ANIMALS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBOSOMAL PROTEINS; ZEBRAFISH;

EID: 84903949048     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-11-540278     Document Type: Article

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