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Titolo:
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN
Autore:
Sutphen, R; Diamond, TM; Minton, SE; Peacocke, M; Tsou, HC; Root, AW;
Indirizzi:
Univrol,lorida, Coll Med, Dept Pediat, H Lee Moffitt Canc Ctr,Div Canc Cont Univ S Florida Tampa FL USA 33612 t, H Lee Moffitt Canc Ctr,Div Canc Cont Univ2S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL 3361 Univ S Florida Tampa FL USA 33612 itt Canc Ctr & Res Inst, Tampa, FL 3361 Univ S Florida, Coll Med, Dept Internal Med, Tampa, FL 33612 USA Univ S Florida Tampa FL USA 33612 Dept Internal Med, Tampa, FL 33612 USA Columbia Univ, Coll Phys & Surg, Dept Dermatol, New York, NY USA Columbia Univ New York NY USA ys & Surg, Dept Dermatol, New York, NY USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 82, anno: 1999,
pagine: 290 - 293
SICI:
0148-7299(19990212)82:4<290:SLDWUG>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
COWDEN SYNDROME; TUMOR-SUPPRESSOR; GENE;
Keywords:
Cowden disease; Lhermitte-Duclos disease; PTEN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Sutphen, R Univrol,lorida, Coll Med, Dept Pediat, H Lee Moffitt Canc Ctr,Div Canc Cont Univ S Florida 12902 Magnolia Dr Tampa FL USA 33612 v Canc Cont
Citazione:
R. Sutphen et al., "Severe Lhermitte-Duclos disease with unique germline mutation of PTEN", AM J MED G, 82(4), 1999, pp. 290-293

Abstract

Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis detected a transitional change (T --> C) at nucleotide 335, resulting in substitution of the amino acid proline for leucine, The mutation is in exon 5, which has been proposed as a "hot-spot" for germline mutations. Comparison of this patient's clinical course with the previouslyreported cases of CD and LDD shows more extensive and more severe clinicalfindings than reported previously. Findings in this patient contribute to the current understanding of germline PTEN mutations and clinical outcome. Am. J. Med, Genet, 82:290-293, 1999, (C) 1999 Wiley-Liss, Inc.

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Documento generato il 02/12/20 alle ore 15:13:09