Human Erythrocyte Carbonic Anhydrase Deficiency in Japanese Populations (Hiroshima, Nagasaki)

Goriki, Kazuaki; Hazama, Ryuji; Yamakido, Michio

doi:10.1111/j.1749-6632.1984.tb12347.x

Cited by 7 publications

(3 citation statements)

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“…All of three patients were habitants in the northern part of Kyushu islands. As Goriki reported, the gene frequency of CA I1 deficiency in the Japanese population was only two presumed heterozygotes among 3296 individuals (Goriki et al, 1984). This indicates that the incidence of CA I1 deficiency is one to ten millions.…”

Section: Discussionmentioning

confidence: 95%

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)

Soda

Yukizane²,

Yoshida³

et al. 1995

Hum. Mutat.

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Section: Discussionmentioning

confidence: 95%

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)

Soda

Yukizane²,

Yoshida³

et al. 1995

Hum. Mutat.

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“…As Goriki et al (1984) reported that the gene frequency of CAII deficiency in the Japanese population was only two presumed heterozygotes among 3296 individuals, CAII deficiency is quite a rare inherited metabolic disorder in Japan.…”

Section: Discussionmentioning

confidence: 99%

Carbonic anhydrase II deficiency in three unrelated Japanese patients

Aramaki

Yoshida

Yoshino

et al. 1993

J of Inher Metab Disea

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Three Japanese patients with carbonic anhydrase II (CAII) deficiency from three families were described. The parents of one patient were unrelated, the parents of each of the other two patients were first cousins. All the patients had renal tubular acidosis, osteopetrosis, symmetrical cerebral calcification and mental retardation. They exhibited poor activity and poor appetite in the neonatal period, and then developed psychomotor retardation. Two of them were diagnosed as having osteopetrosis at 10 months and 36 years of age, respectively, and the other as having osteomalacia at 28 years of age. All patients had recurrent episodes of muscle weakness. The CAII enzyme activity and protein levels in red blood cells in each of the three patients were deficient. Their parents exhibited approximately 50% normal levels of CAII activity and protein. This is the first report of patients with CAII deficiency in the Japanese population.

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“…The concentration of carbonic anhydrase, however, varies significantly from race to race [43,44], person to person [46] and also from cell to cell [ 151. Other less prominent peaks are believed to be from less abundant primary amine group containing species in erythrocytes.…”

Section: Linearity and Limits Ofmentioning

confidence: 99%

A new post-column reactor-laser induced fluorescence detector for capillary electrophoresis

Liling

1996

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Human Erythrocyte Carbonic Anhydrase Deficiency in Japanese Populations (Hiroshima, Nagasaki)

Cited by 7 publications

References 0 publications

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)

Carbonic anhydrase II deficiency in three unrelated Japanese patients

A new post-column reactor-laser induced fluorescence detector for capillary electrophoresis

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