Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

Taillandier, A; Sallinen, S-L; Brun-Heath, I; De Mazancourt, P; Serre, J-L; Mornet, E

Taillandier, A; Sallinen, S-L; Brun-Heath, I; De Mazancourt, P; Serre, J-L; Mornet, E.

Affiliation

Taillandier A; Laboratoire SESEP, Batiment Fermat, Université de Versailles-Saint Quentin en Yvelines, 45 avenue des Etats-Unis, F-78035 Versailles, France.

J Clin Endocrinol Metab ; 90(4): 2436-9, 2005 Apr.

Article in En | MEDLINE | ID: mdl-15671102

Subject(s)

Alkaline Phosphatase/genetics; Hypophosphatasia/genetics; Mutation, Missense; Adolescent; Humans; Male

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Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Alkaline Phosphatase / Hypophosphatasia Limits: Adolescent / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2005 Type: Article Affiliation country: France

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