Literature DB >> 13668563

Carrier state in human acatalasemia.

E T NISHIMURA, H B HAMILTON, T Y KOBARA, S TAKAHARA, Y OGURA, K DOI.   

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.

Entities:  

Keywords:  CATALASE/in blood

Mesh：

Substances：

Year:  1959        PMID： 13668563     DOI： 10.1126/science.130.3371.333

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  8 in total

1.  GENETIC HETEROGENEITY IN HUMAN ACATALASIA.

Authors:  H B HAMILTON; J V NEEL
Journal:  Am J Hum Genet       Date:  1963-12       Impact factor: 11.025

2.  BLOOD GROUP FREQUENCIES IN MONGOLS.

Authors:  M W SHAW; H GERSHOWITZ
Journal:  Am J Hum Genet       Date:  1963-12       Impact factor: 11.025

3.  Recent work on phenylketonuria and maple syrup urine disease (leucinosis).

Authors:  L I WOOLF
Journal:  Proc R Soc Med       Date:  1962-10

4.  The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia.

Authors:  H B HAMILTON; J V NEEL; T Y KOBARA; K OZAKI
Journal:  J Clin Invest       Date:  1961-12       Impact factor: 14.808

5.  Hypocatalasemia: a new genetic carrier state.

Authors:  S TAKAHARA; H B HAMILTON; J V NEEL; T Y KOBARA; Y OGURA; E T NISHIMURA
Journal:  J Clin Invest       Date:  1960-04       Impact factor: 14.808

6.  Frequency of hypocatalasemia in a sample of Spanish population.

Authors:  A Pellicer; L Vicente; E Lopez; M De las Heras; A Casado
Journal:  Experientia       Date:  1975-01-15

7.  [Advances in the recognition of heterozygous characteristics in hereditary enzymopathies].

Authors:  F LINNEWEH
Journal:  Klin Wochenschr       Date:  1962-06-01

8.  Properties of acatalasic cells growing in vitro.

Authors:  R S KROOTH; R R HOWELL; H B HAMILTON
Journal:  J Exp Med       Date:  1962-02-01       Impact factor: 14.307
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.