A carregar...
A Unique Insertion/Duplication in the VDR Gene that Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia
Hereditary vitamin D resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR). Here we describe a patient with HVDRR who also exhibited some hypotrichosis of the scalp but otherwise had normal hair and skin. A 102 bp insertion/duplication was found in the VDR gene that introd...
Na minha lista:
Main Authors: | , , , , , , |
---|---|
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2006
|
Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1892178/ https://ncbi.nlm.nih.gov/pubmed/17078924 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.abb.2006.09.027 |
Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|