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22. An Ile/Val polymorphism at codon 1464 of the ATP7A gene. Ogawa A; Yamamoto S; Takayanagi M; Kogo T; Kanazawa M; Kohno Y J Hum Genet; 1999; 44(6):423-4. PubMed ID: 10570920 [TBL] [Abstract][Full Text] [Related]
23. Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. Kaler SG; Holmes CS; Goldstein DS Adv Pharmacol; 1998; 42():66-8. PubMed ID: 9327848 [No Abstract] [Full Text] [Related]
24. Renal function in patients with Menkes disease. Ozawa H; Kodama H; Kawaguchi H; Mochizuki T; Kobayashi M; Igarashi T Eur J Pediatr; 2003 Jan; 162(1):51-2. PubMed ID: 12607531 [No Abstract] [Full Text] [Related]
30. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Kaler SG; Gallo LK; Proud VK; Percy AK; Mark Y; Segal NA; Goldstein DS; Holmes CS; Gahl WA Nat Genet; 1994 Oct; 8(2):195-202. PubMed ID: 7842019 [TBL] [Abstract][Full Text] [Related]
31. Two highly polymorphic CA repeats in the Menkes gene (ATP7A). Begy CR; Dierick HA; Innis JW; Glover TW Hum Genet; 1995 Sep; 96(3):355-6. PubMed ID: 7649557 [TBL] [Abstract][Full Text] [Related]
32. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Qi M; Byers PH Hum Mol Genet; 1998 Mar; 7(3):465-9. PubMed ID: 9467005 [TBL] [Abstract][Full Text] [Related]
33. Copper-histidine therapy in an infant with novel splice-site variant in the Panichsillaphakit E; Kwanbunbumpen T; Chomtho S; Visuthranukul C BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35393273 [TBL] [Abstract][Full Text] [Related]
34. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Vulpe C; Levinson B; Whitney S; Packman S; Gitschier J Nat Genet; 1993 Jan; 3(1):7-13. PubMed ID: 8490659 [TBL] [Abstract][Full Text] [Related]
35. Menkes gene study in the Chinese population. Mak BS; Chi CS; Tsai CR J Child Neurol; 2002 Apr; 17(4):250-2. PubMed ID: 12088078 [TBL] [Abstract][Full Text] [Related]