Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxtaepiphyseal regions of the long bones. Recently, EXT1 and EXT2 genes were cloned and germline mutations of EXT1 and EX...

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Hlavní autoři: Park, K, Shin, K, Ku, J, Cho, T, Lee, S, Choi, I, Phillipe, C, Monaco, A, Porter, D, Park, J
Médium: Journal article
Jazyk:English
Vydáno: 1999

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