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Article

Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density.

Human mutation - 1 Sept 2003

Park Byung Lae, Han In Kwon, Lee Ho Sa, Kim Lyoung Hyo, Kim Sa Jin, Shin Hyoung Doo

Abstract excerpt

Human transforming growth factor-beta1 (TGFB1) is a family of polypeptides that regulate cell growth, cell differentiation, and cell function as a multifunctional regulator of cellular activity. TGFB1 is produced by osteoblasts and stored in substantial amounts in the bone matrix, which is an important regulator of both skeletal development and homeostasis of bone metabolism. In the present study, we identified...

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Source

Identifiers

PMID: 12938093
DOI: 10.1002/humu.9170

Genes

TGFB1

Provenance

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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