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...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
Témata:
Short Communication
On-line přístup: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
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