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A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE

✍ Scribed by Galia Gat-Yablonski; Liat Ries; D. Lev; Boleslaw Goldman; E. Friedman

Publisher
Springer
Year
1997
Tongue
English
Weight
38 KB
Volume
101
Category
Article
ISSN
0340-6717

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## Communicated by Peter Byers Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the a1 and a2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in a1(I) or a2(I) lea

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The original article to which this Erratum refers was published in Human Mutation 24: 147-154 (2004). In Table 1 of the published original article, the fourth mutation should be c.913G4C (not c.913G4A as originally printed) and it should be bolded as it is a novel mutation. In addition, the last mu