VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis and learning disabilities. A homozygous mutation (c.2005G>T, p, V669L) was found in VA...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Lyon, Gholson J., Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C., Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana, Chung, Wendy K., Velinov, Milen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2019
Konular:
Rapid Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913149/
https://ncbi.nlm.nih.gov/pubmed/31387860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003715
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