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Title:	A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement
Source:	Human Genetics [0340-6717] Soda, H yr:1996

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description	1.	"Effect of metabolic acidosis on hydrogen ion excretion in a pigtail macaque with erythrocyte carbonic anhydrase I deficiency." Proceedings of the Society for Experimental Biology and Medicine. 168.2: 155-.
description	2.	Reithmeier, Reinhart A.F. F. "A membrane metabolon linking carbonic anhydrase with chloride/bicarbonate anion exchangers." Blood cells, molecules, & diseases 27.1 (2001): 85-89.
description	3.	Lim, P Y S. "Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis." Human mutation (1997): 383-7.
description	4.	Sly, William S. "Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification." Proceedings of the National Academy of Sciences of the United States of America 80.9 (1983): 2752-2756.
description	5.	BERGENHEM, N. "MUTATION CREATES AN OPEN READING FRAME WITHIN THE 5' UNTRANSLATED REGION OF MACAQUE ERYTHROCYTE CARBONIC-ANHYDRASE (CA)-I MESSENGER-RNA THAT SUPPRESSES CA-I EXPRESSION AND SUPPORTS THE SCANNING MODEL FOR TRANSLATION." Proceedings of the National Academy of Sciences of the United States of America 89.18 (1992): 8798-8802.
description	6.	Komai, M. "Zinc deficiency and taste dysfunction; contribution of carbonic anhydrase, a zinc-metalloenzyme, to normal taste sensation." BioFactors 12.1-4 (2000): 65-70.
description	7.	Kida, E. "Carbonic anhydrase II in the developing and adult human brain." Journal of neuropathology and experimental neurology 65.7 (2006): 664-74.
description	8.	Sly, W S S. "Human carbonic anhydrases and carbonic anhydrase deficiencies." Annual review of biochemistry 64.1 (1995): 375-401.
description	9.	Maren, T H H. "Carbonic anhydrase: chemistry, physiology, and inhibition." Physiological reviews 47.4 (1967): 595-781.
description	10.	Lindskog, S. "Structure and mechanism of carbonic anhydrase." Pharmacology & therapeutics 74.1: 1-20.
description	11.	Lindskog, S. "Role of histidine 64 in the catalytic mechanism of human carbonic anhydrase II studied with a site-specific mutant." Biochemistry 28.19 (1989): 7913-7918.
description	12.	Freedman, A. "Taste for zinc." Lancet, The 348.9041 (1997): 1592-1592.
description	13.	Maupin, C. "Origins of enhanced proton transport in the Y7F mutant of human carbonic anhydrase II." Journal of the American Chemical Society 130.34 (2008): 11399-11408.
description	14.	Henkin, R. "cAMP and cGMP in Human Parotid Saliva: Relationships to Taste and Smell Dysfunction, Gender, and Age." The American journal of the medical sciences 334.6 (2007): 431-440.
description	15.	TOMITA, H. "ZINC THERAPY ON PATIENTS WITH TASTE DISORDERS." Chemical senses 1988. 318-319.
description	16.	Namer, J-L L. "Neuroimaging In Cockayne Syndrome." AJNR, American journal of neuroradiology 31.9 (2010): 1623-1630.
description	17.	Shah, Gul N N. "Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation." Human mutation 24.3 (2004): 272-272.
description	18.	Hu, P Y. "A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries." Human Mutation 1.4 (1992): 288-292.
description	19.	Bradl, M. "Oligodendrocytes: biology and pathology." Acta Neuropathologica 119.1 (2010): 37-53.
description	20.	SILVERMAN, David N. "THE CATALYTIC MECHANISM OF CARBONIC-ANHYDRASE - IMPLICATIONS OF A RATE-LIMITING PROTOLYSIS OF WATER." Accounts of chemical research 21.1 (1988): 30-36.