Associated Papers
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.
Chellappa V et al.
Plos One, 2013
The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
Gan EH et al.
European Journal of Endocrinology, 2012
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
Hunt KA et al.
Nature Genetics, 2011
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Surolia I et al.
Nature, 2010
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