Carrier state in human acatalasemia.

Science (New York, N.Y.) ·Vol. 130 ·No. 3371 ·1959-08-07 ·Pages 333-4

NISHIMURA ET, HAMILTON HB, KOBARA TY, TAKAHARA S, OGURA Y, DOI K

Abstract

The heterozygous carrier state of a rare hereditary disease, acatalasemia, has been defined biochemically. Affected homozygotes have no blood catalase activity, whereas heterozygotes show activities intermediate between this inactivity and the activity of normal controls, without overlap. Pedigrees show a high frequency of consanguineous marriages.

Keywords

CATALASE/in blood

MeSH Terms

Acatalasia Carrier State Catalase/blood Heterozygote Homozygote Humans Pedigree

Chemicals

Catalase

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

NISHIMURA E T

HAMILTON H B

KOBARA T Y

TAKAHARA S

OGURA Y

DOI K

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.130.3371.333

Published

1959-08-07

Pages

333-4

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.130.3371.333 View journal details

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Carrier state in human acatalasemia.

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