A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Zhou B.; Westaway S.K.; Levinson B.; Johnson M.A.; Gitschier J.; Hayflick S.J.;
Nat. Genet. 28:345-349(2001)
Cited for: IDENTIFICATION; ALTERNATIVE INITIATION AT LEU-111; VARIANTS GLN-111 AND ALA-126; VARIANTS NBIA1 VAL-219; ALA-234; TRP-264; CYS-278; VAL-282; CYS-286; ILE-327; PRO-351; SER-355; ILE-404; PRO-413; ASN-471; THR-497; ILE-500; ARG-521 AND MET-528; TISSUE SPECIFICITY;
Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
Nicholas A.P.; Earnst K.S.; Marson D.C.;
Mov. Disord. 20:880-886(2005)
Cited for: VARIANTS NBIA1 ARG-521 AND LEU-570;
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
Perez-Gonzalez E.A.; Chacon-Camacho O.F.; Arteaga-Vazquez J.; Zenteno J.C.; Mutchinick O.M.;
Eur. J. Med. Genet. 56:606-608(2013)
Cited for: VARIANTS NBIA1 ARG-521 AND SER-555;
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