✦ LIBER ✦

Four novel germline mutations of the APC gene

✍ Scribed by Dagan Wells; Pamela Chapman; Judith C. Landgrebe; Katia Tsioupra; Joy D.A. Delhanty

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 495 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:2<193::aid-humu16>3.0.co;2-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Germline versus somatic mutations of the

Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences

✍ Brendan Marshall; Gloria Isidro; Raquel Carvalhas; Maria Guida Boavida 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 1 views

Peutz-Jeghers syndrome: Four novel inact

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

✍ Roland Kruse; Siegfried Uhlhaas; Christof Lamberti; Klaus M. Keller; Christian J 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 248 KB 👁 2 views

The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected i

Three novel APC gene mutations in portug

Three novel APC gene mutations in portuguese FAP kindreds

✍ Brendan Marshall; Gloria Isidro; Raquel Carvalhas; Isabel Veiga; Sergio Castedo; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 1 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 germline mutations in the ad

Three novel germline mutations in the adenomatous polyposis coli gene

✍ Maria I. Scarano; Marina De Rosa; Maurizio Gentile; Luigi Bucci; Giuseppe P. Fer 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views

Three germline mutations in the TP53 gen

Three germline mutations in the TP53 gene

✍ RS Cornelis; M van Vliet; MJ van de Vijver; HFA Vasen; PA Voute; B Top; P. Meera 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 2 views

Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was foun

Germline mutations are frequent in the A

Germline mutations are frequent in the APC gene but absent in the β-Catenin gene in familial adenomatous polyposis patients

✍ Xia Cao; Kong Weng Eu; Francis Seow-Choen; Peh Yean Cheah 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 121 KB 👁 1 views

Inactivation of the adenomatous polyposis coli (APC) gene has been shown to initiate the majority of colorectal cancer (CRC), including a familial form called familial adenomatous polyposis (FAP). One consequence of the APC mutation is the activation of the ␤-catenin (CTNNB1)/T-cell transcription fa