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Titolo:
Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3 ' APC mutation
Autore:
Kartheuser, A; Walon, C; West, S; Breukel, C; Detry, R; Gribomont, AC; Hamzehloei, T; Hoang, P; Maiter, D; Pringot, J; Rahier, J; Khan, PM; Curtis, A; Burn, J; Fodde, R; Verellen-Dumoulin, C;
Indirizzi:
Catholicrussels,uvain, Med Genet Unit, Ctr Human Genet, Clin Univ St Luc, B Catholic Univ Louvain Brussels Belgium Human Genet, Clin Univ St Luc, B No Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England No Genet Serv Newcastle Upon Tyne Tyne & Wear England ne & Wear, England Leiden Univ, MGC, Dept Human Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands C, Dept Human Genet, Leiden, Netherlands Univiumtholique Louvain, Clin Univ St Luc, Dept Surg, B-1200 Brussels, Belg Univ Catholique Louvain Brussels Belgium B-1200 g, B-1200 Brussels, Belg Univ,Catholique Louvain, Clin Univ St Luc, Dept Ophthalmol, B-1200 Brussels Univ Catholique Louvain Brussels Belgium B-1200 thalmol, B-1200 Brussels Univls,tholique Louvain, Clin Univ St Luc, Dept Internal Med, B-1200 Brusse Univ Catholique Louvain Brussels Belgium B-1200 ernal Med, B-1200 Brusse Univlgiumolique Louvain, Clin Univ St Luc, Dept Radiol, B-1200 Brussels, Be Univ Catholique Louvain Brussels Belgium B-1200 iol, B-1200 Brussels, Be Univlgiumolique Louvain, Clin Univ St Luc, Dept Pathol, B-1200 Brussels, Be Univ Catholique Louvain Brussels Belgium B-1200 hol, B-1200 Brussels, Be
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 36, anno: 1999,
pagine: 65 - 67
SICI:
0022-2593(199901)36:1<65:FAPAWM>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
UPPER GASTROINTESTINAL CANCER; GENE; COLI; LESIONS; MASSES;
Keywords:
familial adenomatous polyposis; APC mutation; adrenal adenoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Kartheuser, A Catholicrussels,uvain, Med Genet Unit, Ctr Human Genet, ClinUniv St Luc, B Catholic Univ Louvain Brussels Belgium lin Univ St Luc, B
Citazione:
A. Kartheuser et al., "Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3 ' APC mutation", J MED GENET, 36(1), 1999, pp. 65-67

Abstract

Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three ofthe four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex andlate onset phenotype of FAP.

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Documento generato il 28/11/20 alle ore 08:45:49