A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

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Citation

Rose NJ, Mackay K, Byers PH, Dalgleish R

A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

Hum Mutat. 1994;3(4):391-4.

PubMed ID
8081394 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
Collagen alpha-2(I) chainP08123Details