טוען...
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...
שמור ב:
| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2013
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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