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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發表在:Cold Spring Harb Mol Case Stud
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Cold Spring Harbor Laboratory Press 2019
主題:
Rapid Communication
在線閱讀: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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