Zobrazeno 1 - 4
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pro vyhledávání: '"B M Orrison"'
Publikováno v:
Journal of Biological Chemistry. 268:25162-25167
The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains. Furthermore, the alpha 2(I)
Publikováno v:
The Journal of biological chemistry. 268(33)
The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains. Furthermore, the alpha 2(I)
Publikováno v:
The Journal of biological chemistry. 268(4)
Serine for glycine substitutions in type I collagen have been described in seven cases of lethal type II osteogenesis imperfecta (OI), and six cases of nonlethal OI. We describe here two cases of moderately severe type IV OI with serine substitutions
Publikováno v:
Genetics in Medicine. 1:50
In many X-linked and autosomal disorders, the absence of a mutation in the parents of an isolated affected child with a known mutation is still compatible with a significant recurrence risk because of parental mosaicism. Mosaicism has always been a t