Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes

International Journal of Cardiology

Volumn 177, Issue 3, 2014, Pages e167-e169

  Wang, Guoliang ^a   Knight, Linda ^b   Ji, Ruirui ^a   Lawrence, Patricia ^c   Kanaan, Usama ^b,c,d   Li, Lei ^a   Das, Anuka ^a   Cui, Bin ^a   Zou, Wenxin ^a   Penny, Daniel J ^a   Fan, Yuxin ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b SIBLEY HEART CENTER CARDIOLOGY   (United States)

^c CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

BMPR2; Frameshift mutation; KCNA5; Pulmonary arterial hypertension

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ARGININE; BONE MORPHOGENETIC PROTEIN 9; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; ENDOGLIN; POTASSIUM CHANNEL KV1.5; SMAD4 PROTEIN; SMAD8 PROTEIN; TREPROSTINIL; TRYPTOPHAN; BMPR2 PROTEIN, HUMAN; KCNA5 PROTEIN, HUMAN;

ACRL1 GENE; ADOLESCENT; AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; AORTOPULMONARY SHUNT; BMP9 GENE; BMPR2 GENE; CASE REPORT; CAV1 GENE; CHILD; DIGENIC MUTATION; DISEASE ASSOCIATION; DNA EXTRACTION; DRUG DOSE TITRATION; ENG GENE; FAINTNESS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HUMAN; KCNA5 GENE; KCNK3 GENE; LETTER; LUNG VASCULAR RESISTANCE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PULMONARY HYPERTENSION; SCHOOL CHILD; SEQUENCE ANALYSIS; SMAD4 GENE; SMAD8 GENE; ADULT; GENETICS; HYPERTENSION, PULMONARY; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; FEMALE; HUMANS; HYPERTENSION, PULMONARY; KV1.5 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; SEVERITY OF ILLNESS INDEX;

EID: 84920028378     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2014.08.124     Document Type: Article

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