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[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta].

Genetika - 1 Mar 2012

Nadyrshina D D, Khusainova R I, Khusnutdinova E K

Abstract excerpt

Nucleotide sequences of exon 51, adjacent intron areas, and regulatory region of the alpha1 chain of type I collagen (COL1A1) gene were analyzed in 41 patients with osteogenesis imperfecta (OI) from 33 families and their 68 relatives residing at Bashkortostan Republic (BR). Six mutations (four nonsense mutations c.967G > T (p.Gly323X), c.1081C > T (p.Arg361X), c.1243C > T (p.Arg415X), and c.2869C > T (p.Gln957X))...

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PMID: 22679784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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