Overview of included studies for CHOR-NKX2-1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Provenzano, 2008 Family study 2 C 50% 1 p.Arg208*: het
Mahajnah, 2007 Family study 5 n.a. 60% 3(+/-0) p.Ala330Serfs*25: het
Asmus, 2007 Family study 2 n.a. 0% 2 c.464-2A>C: het
Devos, 2006 Family study 2 n.a. 100% 2(+/-1) whole gene deletion: het
Moya, 2006 Family study 3 n.a. 0% 1 p.Ala306Argfs*75: het
Costa, 2005 Family study 2 n.a. 50% 1 p.Gln249*: het
Asmus, 2005 Family study 4 n.a. 25% 2(+/-1) p.Glu205*: het
Willemsen, 2005 Case report/Case series 1 C 100% n.a. p.Gln317Profs*122: het
Doyle, 2004 Family study 4 n.a. 25% n.a. c.464-2A>C: het
Kleiner-Fisman, 2003 Family study 5 n.a. 0% 5(+/-6) c.464-2A>T: het
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