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Erratum: BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension

✍ 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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✦ Synopsis


During the rendering of the .pdf version of this article, the o C units were replaced with question marks in Table 1. Please find the proper Table 1 published herein.


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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

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## 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

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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.