𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Eleven novel APC mutations identified in Portuguese FAP families

✍ Scribed by G. Isidro; P. Matos; S. Almeida; S. Claudino; B. Marshall; J. Soares; J. Leite; F. Regateiro; M.J. Brito; J. Giria; C. Castro; J. Ramos; L. Novais; H. Morna; A. Medeira; S. Castedo; M.G. Boavida


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
12 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Three novel APC gene mutations in portug
✍ Brendan Marshall; Gloria Isidro; Raquel Carvalhas; Isabel Veiga; Sergio Castedo; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 225 KB πŸ‘ 2 views

## MUTATION NOTES 395 in TCT, which would cause a frameshift from codon 642 ( C l T a A T T + CXTGATT). This frameshift mutation would generate a stop codon immediately downstream to produce a truncated hMLHl protein. This is the first report of a somatic mutation in DNA mismatch repair genes foun

Three novel mutations and twelve polymor
✍ Avital Adato; Michael D. Weston; Asher Berry; William J. Kimberling; Atsheva Bon πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 71 KB πŸ‘ 2 views

The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long ar

Screening for mutations of the APC gene
✍ Monica Giarola; Lisa Stagi; Silvano Presciuttini; Patrizia Mondini; Maria T. Rad πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 313 KB πŸ‘ 2 views

Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric

Familial adenomatous polyposis coli: Fiv
✍ Maria I. Scarano; Marina De Rosa; Luigi Panariello; Nicola Carlomagno; Gabriele πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 74 KB πŸ‘ 2 views

## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with