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Article

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Human mutation - 1 Feb 2015

Cho Sung Yoon, Asharani P V, Kim Ok-Hwa, Iida Aritoshi, Miyake Noriko, Matsumoto Naomichi, Nishimura Gen, Ki Chang-Seok, Hong Geehay, Kim Su Jin, Sohn Young Bae, Park Sung Won, Lee Jieun, Kwun Younghee, Carney Thomas J, Huh Rimm, Ikegawa Shiro, Jin Dong-Kyu

Abstract excerpt

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal-dominant inheritance, but many autosomal-recessive genes have been reported. We applied whole-exome...

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Identifiers

PMID: 25402547
DOI: 10.1002/humu.22731

Genes

BMP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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