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Identification of a mutational hostspot in the type II collagen gene (COL2A1): A common point mutation in two unrelated individuals with kniest dysplasia

✍ Scribed by Wilkin, D.J.; Bogaert, R.; Wilcox, W.R.; Rimoin, D.L.; Eyre, D.R.; Cohn, D.H.


Book ID
122790854
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
103 KB
Volume
14
Category
Article
ISSN
0945-053X

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Q p e I1 collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype cor- relations in type I1 collagenopathies have not bee