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Titolo:
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
Autore:
Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B;
Indirizzi:
Katholieke Univ Leuven, UZ Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium Katholieke Univ Leuven Louvain Belgium B-3000 t, B-3000 Louvain, Belgium Univ Hosp E, Dept Clin Genet, Gothenburg, Sweden Univ Hosp E Gothenburg Sweden sp E, Dept Clin Genet, Gothenburg, Sweden Burnham Inst, La Jolla, CA 92037 USA Burnham Inst La Jolla CA USA 92037Burnham Inst, La Jolla, CA 92037 USA Univ Coll London, Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England Univ Coll London London England ndocrinol & Metab Unit, London, England Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark Copenhagen Univ Hosp Copenhagen Denmark Clin Genet, Copenhagen, Denmark Hop Bichat Claude Bernard, F-75877 Paris, France Hop Bichat Claude Bernard Paris France F-75877 rd, F-75877 Paris, France
Titolo Testata:
HUMAN MUTATION
fascicolo: 5, volume: 16, anno: 2000,
pagine: 386 - 394
SICI:
1059-7794(2000)16:5<386:MIPTCC>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOMUTASE-2 GENE; MISSENSE MUTATIONS; FAMILIES; SEC53;
Keywords:
congenital disorders of glycosylation, type Ia; CDG-Ia; carbohydrate-deficient glycoprotein; syndrome; CDGS; phosphomannomutase 2; PMM2; mutation analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Matthijs, G Katholieke Univ Leuven, UZ Gasthuisberg, Ctr Human Genet, Herestr 49, B-3000 Louvain, Belgium Katholieke Univ Leuven Herestr 49 Louvain Belgium B-3000 gium
Citazione:
G. Matthijs et al., "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)", HUM MUTAT, 16(5), 2000, pp. 386-394

Abstract

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs ct al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case reports or abstracts [Crosby et al., 1999; Kondo et al., 1999; Krasnewich ct al,,1999; Mizugishi et al,, 1999; Vuillaumier-Barrot ct al., 1999, 2000b]. However, the number of molecularly characterized cases is steadily increasing and many new mutations may never make it to the literature. Therefore, we decided to collate data from six research and diagnostic laboratories that have committed themselves to a systematic search for PMM2 mutations. In total we list 58 different mutations found in 249 patients from 23 countries. We have also collected demographic data and registered the number of deceased patients. The documentation of the genotype-phenotype correlation is certainly valuable, but is out of the scope of this molecular update. The list of mutations will also be available online (URL: http://www.kuleuven.ac.be/med/cdg) and investigators are invited to submit new data to this PMM2 mutation database. Hum Mutat 16:386-394, 2000. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 19:54:10