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Titolo:
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia
Autore:
Mornet, E; Muller, F; Ngo, S; Taillandier, A; Simon-Bouy, B; Maire, I; Oury, JF;
Indirizzi:
Univ Versailles, SESEP, Ctr Etud Biol Prenatale, F-78035 Versailles, France Univ Versailles Versailles France F-78035 le, F-78035 Versailles, France Hop Ambroise Pare, Biochim Lab, Boulogne, France Hop Ambroise Pare Boulogne France e Pare, Biochim Lab, Boulogne, France Hop Debrousse, Serv Biochim, Lyon, France Hop Debrousse Lyon FranceHop Debrousse, Serv Biochim, Lyon, France Hop Robert Debre, F-75019 Paris, France Hop Robert Debre Paris France F-75019 obert Debre, F-75019 Paris, France
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 8, volume: 19, anno: 1999,
pagine: 755 - 757
SICI:
0197-3851(199908)19:8<755:COAP(D>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFANTILE HYPOPHOSPHATASIA; ISOENZYME; MUTATIONS;
Keywords:
hypophosphatasia; alkaline phosphatase; prenatal diagnosis; mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Mornet, E Univ Versailles, SESEP, Ctr Etud Biol Prenatale, Batiment Fermat,45 Ave Etats Unis, F-78035 Versailles, France Univ Versailles Batiment Fermat,45 Ave Etats Unis Versailles France F-78035
Citazione:
E. Mornet et al., "Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia", PRENAT DIAG, 19(8), 1999, pp. 755-757

Abstract

Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non-specific alkaline phosphatase (TNSALP) gene is reliable and,mostly informative. However, alkaline phosphatase (ALP) assay of CVS may be a useful complementary and independent method, especially when a mutation is unidentified and DNA from the index case is unavailable, rendering impossible the use of DNA polymorphisms as genetic markers of the disease. We reporthere mutation analysis of the TNSALP gene and ALP assay in nine cases of prenatal diagnosis of severe hypophosphatasia. The results showed a good correlation between ALP assay and DNA analysis in all but one case, which suggested that in at least some cases low values of ALP may correspond to affected fetuses as well as to heterozygotes. Copyright (C) 1999 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 08:44:23