Article
Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development.
Molecular endocrinology (Baltimore, Md.) - 1 Mar 2005
Denley Adam, Wang Chunxiao C, McNeil Kerrie A, Walenkamp Marie J E, van Duyvenvoorde Hermine, Wit Jan M, Wallace John C, Norton Raymond S, Karperien Marcel, Forbes Briony E
Abstract excerpt
We have previously described the phenotype resulting from a missense mutation in the IGF-I gene, which leads to expression of IGF-I with a methionine instead of a valine at position 44 (Val44Met IGF-I). This mutation caused severe growth and mental retardation as well as deafness evident at birth and growth retardation in childhood, but is relatively well tolerated in adulthood. We have conducted a biochemical...
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