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Titolo:
EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)
Autore:
MATTHIJS G; LEGIUS E; SCHOLLEN E; VANDENBERK P; JAEKEN J; BARONE R; FIUMARA A; VISSER G; LAMBERT M; CASSIMAN JJ;
Indirizzi:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,HEREST 49 B-3000 LOUVAIN BELGIUM UNIV HOSP,DEPT PEDIAT LOUVAIN BELGIUM UNIV CATANIA,PEDIAT CLIN CATANIA ITALY ACAD HOSP GRONINGEN,DEPT PEDIAT GRONINGEN NETHERLANDS HOP ST JUSTINE,SERV GENET MED MONTREAL PQ H3T 1C5 CANADA
Titolo Testata:
Genomics
fascicolo: 3, volume: 35, anno: 1996,
pagine: 597 - 599
SICI:
0888-7543(1996)35:3<597:EFGITC>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE DISEQUILIBRIUM; ASSOCIATION; DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
G. Matthijs et al., "EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)", Genomics, 35(3), 1996, pp. 597-599

Abstract

We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein syndrome type I (CDG1). First, linkage to the region between D16S406 and D16S500 is confirmed. The telomeric border of the candidate region is now definitively placed proximal to D16S406 by crossovers observed in 2 families. Second, in 1 family with 2 affected siblings, the disease is not linked to chromosome 16p. Genetic heterogeneity has not been previously reported for CDG1, and this observation has implications for prenatal diagnosis. Third, allelic associations suggest that the disease locus islocalized close to D16S414/D16S497. This places the region of interest centromeric of its published localization. (C) 1996 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 16:02:30