Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Erlich, Yaniv, Edvardson, Simon, Hodges, Emily, Zenvirt, Shamir, Thekkat, Pramod, Shaag, Avraham, Dor, Talya, Hannon, Gregory J., Elpeleg, Orly
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2011
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083082/
https://ncbi.nlm.nih.gov/pubmed/21487076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.117143.110
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