GENETIC HETEROGENEITY IN HUMAN ACATALASIA

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1963 Dec 1

PMID 14097235

Citations 3

Authors

H B Hamilton

J V Neel

Affiliations

Soon will be listed here.

Citing Articles

Yale and the Atomic Bomb Casualty Commission.

BOWERS J Yale J Biol Med. 1983; 56(1):39-45.

PMID: 6349145 PMC: 2589560.

[On the cellular distribution of catalase in the blood of homozygous and heterozygous defect-carriers (acatalasia)].

AEBI H, Cantz M Humangenetik. 1966; 3(1):50-63.

PMID: 5986055 DOI: 10.1007/BF00273019.

Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups.

Wolf B, ROSENBERG L J Clin Invest. 1978; 62(5):931-6.

PMID: 711858 PMC: 371850. DOI: 10.1172/JCI109221.

References

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AEBI H, HEINIGER J, BUETLER R, HAESSIG A . Two cases of acatalasia in Switzerland. Experientia. 1961; 17:466. DOI: 10.1007/BF02158293. View

KROOTH R, Howell R, Hamilton H . Properties of acatalasic cells growing in vitro. J Exp Med. 1962; 115:313-28. PMC: 2137495. DOI: 10.1084/jem.115.2.313. View

Baur E . Catalase abnormality in a Caucasian family in the United States. Science. 1963; 140(3568):816-7. DOI: 10.1126/science.140.3568.816. View

Richardson M, HUDDLESON I, Bethea R, TRUSTDORF M . Study of catalase in erythrocytes and bacteria. II. Catalase activity of erythrocytes from different species of normal animals and from normal humans. Arch Biochem Biophys. 1953; 42(1):124-34. DOI: 10.1016/0003-9861(53)90246-x. View

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NISHIMURA E, Hamilton H, KOBARA T, Takahara S, Ogura Y, Doi K . Carrier state in human acatalasemia. Science. 1959; 130(3371):333-4. DOI: 10.1126/science.130.3371.333. View

Hamilton H, Neel J, KOBARA T, Ozaki K . The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. J Clin Invest. 1961; 40:2199-208. PMC: 290929. DOI: 10.1172/JCI104446. View

10.

AEBI H, JEUNET F, Richterich R, SUTER H, Butler R, Frei J . Observations in two Swiss families with acatalasia. Enzymol Biol Clin (Basel). 1962; 2:1-22. DOI: 10.1159/000458069. View

11.

Liddell J, Lehmann H, SILK E . A 'silent' pseudo-cholinesterase gene. Nature. 1962; 193:561-2. DOI: 10.1038/193561a0. View

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Takahara S, Ogata M, KOBARA T, NISHIMURA E, Brown W . The "catalase protein" of acatalasemic red blood cells. An electrophoretic and immunologic study. Lab Invest. 1962; 11:782-90. View

13.

NISHIMURA E, KOBARA T, Takahara S, Hamilton H, MADDEN S . Immunologic evidence of catalase deficiency in human hereditary acatalasemia. Lab Invest. 1961; 10:333-40. View

14.

Takahara S, Hamilton H, Neel J, KOBARA T, Ogura Y, NISHIMURA E . Hypocatalasemia: a new genetic carrier state. J Clin Invest. 1960; 39:610-9. PMC: 293346. DOI: 10.1172/JCI104075. View