Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

Human Mutation

Volumn 30, Issue 4, 2009, Pages 649-654

  Hamid, Rizwan ^a,b   Cogan, Joy D ^a   Hedges, Lora K ^a   Austin, Eric ^a   Phillips III, John A ^a   Newman, John H ^a   Loyd, James E ^a  

^a VANDERBILT UNIVERSITY   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

BMPR2; FPAH; Modifier; NMD; Penetrance; PPH; Pulmonary arterial hypertension

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2;

ALLELE; ARTICLE; CELL IMMORTALIZATION; CONTROLLED STUDY; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; REAL TIME POLYMERASE CHAIN REACTION;

ALLELES; BLOTTING, WESTERN; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CELL LINE, TRANSFORMED; FAMILY HEALTH; GENE EXPRESSION; GENOTYPE; HUMANS; HYPERTENSION, PULMONARY; MUTATION; PENETRANCE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 63749109111     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20922     Document Type: Article

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