Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: Implications for treating pulmonary hypertension

Clinical Genetics

Volumn 77, Issue 3, 2010, Pages 280-286

  Hamid, R ^a   Hedges, L K ^a   Austin, E ^a   Phillips, J A ^a   Loyd, J E ^b   Cogan, J D ^a  

^a Department of Pediatrics ^*  (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

BMPR2; Gentamicin; HPAH; NMD; Nonsense mediated decay; Premature termination codon; PTC; Pulmonary hypertension; Translational read through

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LYMPHOCYTE CULTURE; MALE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SIGNAL TRANSDUCTION; STOP CODON; TRANSLATION INITIATION;

AMINOGLYCOSIDES; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CODON, NONSENSE; FEMALE; HUMANS; HYPERTENSION, PULMONARY; LYMPHOCYTES; MALE; MUTATION; PEDIGREE;

EID: 77950141575     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01311.x     Document Type: Article

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