A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121289/
https://ncbi.nlm.nih.gov/pubmed/27896079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.01.002
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados