A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

L. Martins, E.L. dos Santos, A.B. de Almeida, R.A. Machado, A.M. Lyrio, B.L. Foster, K.R. Kantovitz, R.D. Coletta, F.H. Nociti Jr

ARTIGO

Inglês

Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL).Hypophosphatasia (HPP) is caused by genetic alterations of the ALPL...

CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQ

COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPES

Fechado

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

L. Martins, E.L. dos Santos, A.B. de Almeida, R.A. Machado, A.M. Lyrio, B.L. Foster, K.R. Kantovitz, R.D. Coletta, F.H. Nociti Jr


										

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

L. Martins, E.L. dos Santos, A.B. de Almeida, R.A. Machado, A.M. Lyrio, B.L. Foster, K.R. Kantovitz, R.D. Coletta, F.H. Nociti Jr

    Fontes

    Osteoporosis international: with other metabolic bone diseases

    Vol. 31 (Nov., 2020), p. 2251-2257