A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

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Article

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

Acta biochimica Polonica - 1 Jan 2002

Galicka Anna, Wolczynski Slawomir, Lesniewicz Ryszard, Chyczewski Lech, Gindzienski Andrzej

Abstract excerpt

Cultured skin fibroblasts from a proband with a lethal form of osteogenesis imperfecta produce two forms of type I collagen chains, with normal and delayed electrophoretic migration; collagen of the proband's mother was normal. Peptide mapping experiments localized the structural defect in the proband to alpha1(I) CB8 peptide in which residues 123 to 402 are spaned. Direct sequencing of amplified cDNA covering...

Topics

Amino Acid Substitution
Arginine
Base Sequence
Collagen Type I
Genes, Lethal
Glycine
Hot Temperature
Humans
Male
Osteogenesis Imperfecta
Phenotype
Thermodynamics

Source

Open in PubMed

Identifiers

PMID: 12362986

Provenance

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