Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome

Human Mutation

Volumn 36, Issue 2, 2015, Pages 187-190

  Bacrot, Séverine ^a   Doyard, Mathilde ^a   Huber, Céline ^a   Alibeu, Olivier ^a   Feldhahn, Niklas ^b   Lehalle, Daphné ^a   Lacombe, Didier ^c   Marlin, Sandrine ^a   Nitschke, Patrick ^d   Petit, Florence ^e   Vazquez, Marie Paule ^f   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a IMAGINE INSTITUTE   (France)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c UNIVERSITÉ DE BORDEAUX   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Alternative splicing; Cerebro costo mandibular syndrome; NMD; SNRPB; Spliceosome

Indexed keywords

PEPTIDE; POLYPEPTIDE; SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE B; UNCLASSIFIED DRUG;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CEREBRO COSTO MANDIBULAR SYNDROME; CODON; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXON; FAMILIAL DISEASE; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LEUKOCYTE; MALE; NONSENSE MEDIATED MRNA DECAY; PIERRE ROBIN SYNDROME; PREMATURITY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICEOSOME;

EID: 84964238154     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22729     Document Type: Article

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