Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA

American Journal of Human Genetics

Volumn 72, Issue 4, 2003, Pages 961-974

  Rickard, Sarah J ^a   Wilson, Louise C ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; MESSENGER RNA; PROTEIN GNAS1; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ALBRIGHT SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FOLLOW UP; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MALE; MODEL; PARENT; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RNA SPLICING;

EID: 0037386191     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/374566     Document Type: Article

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