Primary pulmonary hypertension (PPH) is a potentially lethal disorder, in which heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR2) gene (BMPR2) have been identified. We conducted a molecular study of BMPR2 mutations in 4 Japanese families with familial PPH and 30 J
Erratum: BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension
β Scribed by Hiroko Morisaki; Norifumi Nakanishi; Shingo Kyotani; Atsushi Takashima; Hitonobu Tomoike; Takayuki Morisaki
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 136 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1059-7794
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β¦ Synopsis
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π SIMILAR VOLUMES
## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFΞ²/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi
to facilitate mutation annotation comparison (SCN5A cDNA reference: NM\_198056.1 or GI: 37622906; amino acid reference sequence: SWISS-PROT entry Q14524, long splice variant, 2,016 amino acids): Mutation: c.