Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference21 articles.
1. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.
2. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
3. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
4. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
5. A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.
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1. Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family;BMC Medical Genomics;2022-07-08
2. Skeletal Dysplasias;Clinics in Perinatology;2015-06
3. Expression of mutant α(I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV;Journal of Bone and Mineral Research;2009-12-03
4. Developmental Disorders of Bone;Molecular and Cellular Biology of Bone;1998
5. Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type;Journal of Biological Chemistry;1996-08
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