Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

BACKGROUND: Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298485/
https://ncbi.nlm.nih.gov/pubmed/22280810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-10
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados