Autor: Lesniewicz, Ryszard - Katalog OPAC zbiorów

Skocz do pozycji: 1.

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Skocz do pozycji: 2.

Tytuł:: A novel Gly to Arg substitution at position 388 of the α1 chain of type I collagen in lethal form of osteogenesis imperfecta.
Autorzy:: Galicka, Anna
Wolczynski, Slawomir
Lesniewicz, Ryszard
Chyczewski, Lech
Gindzienski, Andrzej
Powiązania:: https://bibliotekanauki.pl/articles/1043783.pdf
Data publikacji:: 2002
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: osteogenesis imperfecta
collagen
Opis:: 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 α1(I) CB8 peptide in which residues 123 to 402 are spaned. Direct sequencing of amplified cDNA covering this region revealed a G to A single base change in one allele of the α1(I) chain, that converted glycine 388 to arginine. Restriction enzyme digestion of the RT-PCR product was consistent with a heterozygous COL1A1 mutation. The novel mutation conforms to the linear gradient of clinical severity for the α1(I) chain and results in reduced thermal stability by 3°C and intracellular retention of abnormal molecules.
Źródło:: Acta Biochimica Polonica; 2002, 49, 2; 443-450
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

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