Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)(2)D] levels. HHRH is caused by mutations in the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ichikawa, Shoji, Tuchman, Shamir, Padgett, Leah R., Gray, Amie K., Baluarte, H. Jorge, Econs, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3903128/
https://ncbi.nlm.nih.gov/pubmed/24176905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2013.10.018
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados