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ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

✍ Scribed by Nathalie Dagoneau; Catherine Benoist-Lasselin; Céline Huber; Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Hélène Dollfus; Yves Alembik; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire


Book ID
117854533
Publisher
American Society of Human Genetics
Year
2004
Tongue
English
Weight
784 KB
Volume
75
Category
Article
ISSN
0002-9297

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We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G4A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the À1 position relative to the ADAMTS10 signal peptidase cleavage site. p.A

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