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MAPT S305N

MUTATIONS MAPT 44087767 GRCh37/hg19 rs63751165 G A 123802G> A 120981G> A Exon 10 Point, Missense Coding Stem-loop instability leading to alterations in the ratio of 3-repeat (3R) tau to 4-repeat (4R) tau. Reduced lysosomal degradation of tau. Numerous neurofi

MAPT S305S

MUTATIONS MAPT 44087768 GRCh37/hg19 rs63750568 T C g.123803T> C g.120982T> C Exon 10 Point, Silent Coding This silent mutation increases the splicing in of exon 10 and results in overproduction of tau isoforms containing four repeats (4R). Variable, but assoc

Methylation a Turn Off for Disease Gene C9ORF72?

RESEARCH NEWS 2013-06-06 Research News Nucleotide repeats in the C9ORF72 gene are the most common cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Since their discovery, the hexanucleotides have presented a puzzle for scientists

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