Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders

CONTEXT: Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or dental disease have undiagnosed HPP, caused by ALPL variants...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Dahir, Kathryn M, Tilden, Daniel R, Warner, Jeremy L, Bastarache, Lisa, Smith, Derek K, Gifford, Aliya, Ramirez, Andrea H, Simmons, Jill S, Black, Margo M, Newman, John H, Denny, Josh C
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2018
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6456921/
https://ncbi.nlm.nih.gov/pubmed/29659871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02676
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados