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A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals
Author(s) -
Rose Nicola J.,
Mackay Katrina,
Byers Peter H.,
Dalgleish Raymond
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030411
Subject(s) - osteogenesis imperfecta , library science , medicine , pathology , computer science