Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Nesin V, Wiley G, Kousi M, Ong E, Lehmann T, Nicholl D, Suri M, Shahrizaila N, Katsanis N, Gaffney P, Wierenga K, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A 2014; 111:4197-202.
Mar 3, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Mar 3, 2014
Proc Natl Acad Sci U S A 2014; 111:4197-202
Nesin Vasyl, Wiley Graham, Kousi Maria, Ong E-Ching, Lehmann Thomas, Nicholl David J, Suri Mohnish, Shahrizaila Nortina, Katsanis Nicholas, Gaffney Patrick M, Wierenga Klaas J, Tsiokas Leonidas
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