A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

BACKGROUND: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. METHODS AND RESULTS: We identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS...

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Detalhes bibliográficos
Main Authors: Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3765793/
https://ncbi.nlm.nih.gov/pubmed/23957953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-126
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