Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet, E; Taillandier, A; Peyramaure, S; Kaper, F; Muller, F; Brenner, R; Bussière, P; Freisinger, P; Godard, J; Le Merrer, M; Oury, J F; Plauchu, H; Puddu, R; Rival, J M; Superti-Furga, A; Touraine, R L; Serre, J L; Simon-Bouy, B

Mornet, E; Taillandier, A; Peyramaure, S; Kaper, F; Muller, F; Brenner, R; Bussière, P; Freisinger, P; Godard, J; Le Merrer, M; Oury, J F; Plauchu, H; Puddu, R; Rival, J M; Superti-Furga, A; Touraine, R L; Serre, J L; Simon-Bouy, B.

Affiliation

Mornet E; Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, France. etienne.mornet@cytogene.uvsq.fr

Eur J Hum Genet ; 6(4): 308-14, 1998.

Article in En | MEDLINE | ID: mdl-9781036

Subject(s)

Alkaline Phosphatase/genetics; Hypophosphatemia/genetics; Mutation; Base Sequence; DNA Primers; Europe; Humans; Hypophosphatemia/diagnosis; Hypophosphatemia/enzymology; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Prenatal Diagnosis

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Collection: 01-internacional Database: MEDLINE Main subject: Hypophosphatemia / Alkaline Phosphatase / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1998 Type: Article Affiliation country: France

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