Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension.
Uehara
Ritei
R
Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan. u-ritei@jichi.ac.jp
Suzuki
Hideaki
H
Kurokawa
Naokiyo
N
Urashima
Takashi
T
Fujiwara
Masako
M
Matoba
Masako
M
Eto
Yoshikatsu
Y
D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D007564:Japan; D008297:Male; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D018389:Codon, Nonsense; D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II