Title : Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

Pub. Date : 1992 Jul

PMID : 1376965






1 Functional Relationships(s)
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1 It is interesting that such glycine substitutions inside the COL1A1 or COL1A2 genes have been associated with many cases of osteogenesis imperfecta. Glycine collagen type I alpha 2 chain Homo sapiens