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Article

Brachydactyly type A2 associated with a defect in proGDF5 processing

18 Jan 2008

Abstract excerpt

We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. The observed mutation is located at the processing site of the protein, at which the GDF5 precursor is thought to be cleaved releasing the mature molecule from the prodomain. In order to test the effect of the...

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PMID: 18203755
DOI: 10.1093/hmg/ddn012

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