Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

American Journal of Human Genetics

Volumn 83, Issue 6, 2008, Pages 769-780

  Gazda, Hanna T ^a,b   Sheen, Mee Rie ^a   Vlachos, Adrianna ^c,d   Choesmel, Valerie ^e,f   O'Donohue, Marie Françoise ^e,f   Schneider, Hal ^a   Darras, Natasha ^a   Hasman, Catherine ^a   Sieff, Colin A ^b,g   Newburger, Peter E ^h   Ball, Sarah E ⁱ   Niewiadomska, Edyta ^j   Matysiak, Michal ^j   Zaucha, Jan M ^k   Glader, Bertil ^l   Niemeyer, Charlotte ^m   Meerpohl, Joerg J ^m   Atsidaftos, Eva ^c,d   Lipton, Jeffrey M ^c,d   Gleizes, Pierre Emmanuel ^e,f   Beggs, Alan H ^a,b   more..

^a Manton Center for Orphan Disease Research   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e UNIVERSITÉ DE TOULOUSE   (France)

^f CNRS   (France)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

ⁱ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^j MEDICAL UNIVERSITY OF WARSAW   (Poland)

^k MEDICAL UNIVERSITY OF GDANSK   (Poland)

^l STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOMAL PROTEIN L11; RIBOSOMAL PROTEIN L5; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INFANT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RPL11 GENE; RPL36 GENE; RPL5 GENE; RPS15 GENE; RPS17 GENE; RPS27A GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; THUMB MALFORMATION;

ANEMIA, DIAMOND-BLACKFAN; CLEFT PALATE; HUMANS; MUTATION; RIBOSOMAL PROTEINS; RIBOSOME SUBUNITS, LARGE; RIBOSOME SUBUNITS, SMALL; THUMB;

EID: 57649088933     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.11.004     Document Type: Article

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