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A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses

✍ Scribed by Yi-Ru Shi; Jer-Yuarn Wu; Fuu-Jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 16 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200102)17:2<158::aid-humu24>3.0.co;2-5

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✦ Synopsis

Amino acid change / trivial name: K218fsX247

Mutation / polymorphism type: Insertion-deletion resulting in a frameshift which causes a translational stop 30 codons downstream.

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