Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.

doi:10.1016/j.jneuroim.2012.04.021

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Article

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.

Journal of neuroimmunology - 15 Sept 2012

Scott Adrian P, Laing Nigel G, Mastaglia Frank, Dalakas Marinos, Needham Merrilee, Allcock Richard J N

Abstract excerpt

The NOTCH4 gene, located within the MHC region, is involved in cellular differentiation and has varying effects dependent on tissue type. Coding region polymorphisms haplotypic of the sIBM-associated 8.1 ancestral haplotype were identified in NOTCH4 and genotyped in two different Caucasian sIBM cohorts. In both cohorts the frequency of the minor allele of rs422951 and the 12-repeat variation for rs72555375 was...

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PMID: 22732452
DOI: 10.1016/j.jneuroim.2012.04.021

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NOTCH4

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