Literature DB >> 8162025

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.

V Meiner1, D A Marais, A Reshef, I Björkhem, E Leitersdorf.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8162025     DOI： 10.1093/hmg/3.1.193

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  3 in total

1.  Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.

Authors:  N Wakamatsu; M Hayashi; H Kawai; H Kondo; Y Gotoda; Y Nishida; R Kondo; S Tsuji; T Matsumoto
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-08       Impact factor: 10.154

2.  Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

Authors:  M H Lee; S Hazard; J D Carpten; S Yi; J Cohen; G T Gerhardt; G Salen; S B Patel
Journal:  J Lipid Res       Date:  2001-02       Impact factor: 5.922

3.  Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.

Authors:  E Leitersdorf; R Safadi; V Meiner; A Reshef; I Björkhem; Y Friedlander; S Morkos; V M Berginer
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.