A carregar...
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome
INTRODUCTION: Many COL4A5 splice region variants have been described in patients with X-linked Alport syndrome, but few have been confirmed by functional analysis to actually cause defective splicing. We sought to demonstrate that a novel COL4A5 splice region variant in a family with Alport syndrome...
Na minha lista:
| Publicado no: | Pediatr Nephrol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5400701/ https://ncbi.nlm.nih.gov/pubmed/28013382 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-016-3565-4 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|