Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels, is caused by mutations in the coding region of the phosphatidylinositol glycan anchor biosynthesis, class V (PIGV) gene, the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Murakami, Yoshiko, Kanzawa, Noriyuki, Saito, Kazunobu, Krawitz, Peter M., Mundlos, Stefan, Robinson, Peter N., Karadimitris, Anastasios, Maeda, Yusuke, Kinoshita, Taroh
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3307314/
https://ncbi.nlm.nih.gov/pubmed/22228761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.331090
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados