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A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: Identification of three novel mutations of the FM03 gene

✍ Scribed by Esposito Teresa; Fortunato Lonardo; Agata Fiumara; Cinzia Lombardi; Paola Russo; Cecilia Zuppi; Gioacchino Scarano; Salvatore Musumeci; Fernando Gianfrancesco


Book ID
116987836
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
130 KB
Volume
88
Category
Article
ISSN
1096-7192

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## Symphalangism (SYM or SYM1 ) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which