𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes

✍ Scribed by Cruz-Correa, Marcia; Diaz-Algorri, Yaritza; Mendez, Vanessa; Vazquez, Pedro Juan; Lozada, Maria Eugenia; Freyre, Katerina; Lathroum, Liselle; Gonzalez-Pons, Maria; Hernandez-Marrero, Jessica; Giardiello, Francis; Rodriguez-Quilichini, Segundo

Book ID
121330817
Publisher
Springer Netherlands
Year
2013
Tongue
English
Weight
255 KB
Volume
12
Category
Article
ISSN
1389-9600

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Characterization of two novel adenomatou
Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP)
✍ Bharati Bapat; Terri Berk; Angela Mitri; Zane Cohen; Steven Gallinger; Hartley S πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 398 KB πŸ‘ 2 views

Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline D N A of 81 unrelated FAP patients and evalua

Molecular and clinical characteristics i
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis
✍ P. Hutter; C. Rey-Berthod; P.O. Chappuis; A. Couturier; V. Membrez; A. Murphy; F πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 44 KB

## Communicated by Riccardo Fodde Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of th