NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
نویسندگان
چکیده
منابع مشابه
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of NIPA1 have been associated with a higher susceptibility to amyotrophic lateral sclerosis (ALS). The exact role of genetic variation in NIPA1 in ALS susceptibility and disease course is, however, not known. We sequenced the entire coding sequ...
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A hexanucleotide repeat expansion (HRE) in the C9orf72 gene has been identified as the most common mutation in amyotrophic lateral sclerosis (ALS) among Caucasian populations. We sought to comprehensively evaluate genetic and epigenetic variants of C9orf72 and the contribution of the HRE in Chinese ALS cases. We performed fragment-length and repeat-primed polymerase chain reaction to determine ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2012
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/dds064