RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

British Journal of Haematology

Volumn 127, Issue 1, 2004, Pages 105-113

  Gazda, Hanna T ^a,b,c   Zhong, Rong ^a   Long, Lilia ^a   Niewiadomska, Edyta ^d   Lipton, Jeffrey M ^e   Ploszynska, Anna ^f   Zaucha, Jan M ^f   Vlachos, Adrianna ^e   Atsidaftos, Evangelia ^e   Viskochil, David H ^g   Niemeyer, Charlotte M ^h   Meerpohl, Joerg J ^h   Rokicka Milewska, Roma ^d   Pospisilova, Dagmar ⁱ   Wiktor Jedrzejczak, W ^a,b   Nathan, David G ^a,c   Beggs, Alan H ^b,c   Sieff, Colin A ^a,b,c  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^f MEDICAL UNIVERSITY OF GDANSK   (Poland)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

Author keywords

Diamond Blackfan anaemia; Haplo insufficiency; RPS19 gene mutations

Indexed keywords

CD34 ANTIGEN; MESSENGER RNA; PROTEIN; RIBOSOME PROTEIN; RNA;

ALLELE; ARTICLE; BLACKFAN DIAMOND ANEMIA; BONE MARROW CELL; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HUMAN; HYPOPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MONONUCLEAR CELL; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RIBOSOME;

ANEMIA, DIAMOND-BLACKFAN; ANTIGENS, CD34; BONE MARROW CELLS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HAPLOTYPES; HUMANS; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBOSOMAL PROTEINS; RNA, MESSENGER;

EID: 4944266230     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05152.x     Document Type: Article

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