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A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female

✍ Scribed by Pascal Bernard; Louisa Ludbrook; Gloria Queipo; Mary-Beth Dinulos; Gad B. Kletter; Yao-Hua Zhang; James K. Phelan; Edward R.B. McCabe; Vincent R. Harley; Eric Vilain


Book ID
116987802
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
600 KB
Volume
88
Category
Article
ISSN
1096-7192

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APC mutation in the alternatively splice
✍ Rob B. Luijt; Hans F. A. Vasen; Carli M. J. Tops; Cor Breukel; Riccardo Fodde; P πŸ“‚ Article πŸ“… 1995 πŸ› Springer 🌐 English βš– 1007 KB

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gen