A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia : a phenotype-genotype association and computational analysis study

A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia : a phenotype-genotype association and computational analysis study

Luciane Martins, Amanda Bandeira de Almeida, Elis Janaina Lira dos Santos, Brian L. Foster, Renato Assis Machado, Kamila Rosamilia Kantovitz, Ricardo D. Coletta, Francisco H. Nociti Jr.

ARTIGO

Inglês

Hypophosphatasia (HPP) is an inherited metabolic disorder that causes defective skeletal and dental mineralization. HPP exhibits a markedly heterogeneous range of clinical manifestations caused by dysfunction of the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP), resulting from...

CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQ

COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPES

Fechado

A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia : a phenotype-genotype association and computational analysis study

Luciane Martins, Amanda Bandeira de Almeida, Elis Janaina Lira dos Santos, Brian L. Foster, Renato Assis Machado, Kamila Rosamilia Kantovitz, Ricardo D. Coletta, Francisco H. Nociti Jr.


										

A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia : a phenotype-genotype association and computational analysis study

Luciane Martins, Amanda Bandeira de Almeida, Elis Janaina Lira dos Santos, Brian L. Foster, Renato Assis Machado, Kamila Rosamilia Kantovitz, Ricardo D. Coletta, Francisco H. Nociti Jr.

    Fontes

    Bone

    Vol. 125 (Aug., 2019), p. 128-139