Literature DB >> 9147888

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

P Lombardi1, S W Kamerling, J C Defesche, J J Kastelein, L M Havekes.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 9147888     DOI： 10.1111/j.1399-0004.1996.tb02727.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  2 in total

1.  Expression of an LDL receptor allele with two different mutations (E256K and I402T).

Authors:  U Ekström; M Abrahamson; T Sveger; X M Sun; A K Soutar; P Nilsson-Ehle
Journal:  Mol Pathol       Date:  2000-02

2.  LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Authors:  M Varret; J P Rabés; R Thiart; M J Kotze; H Baron; A Cenarro; O Descamps; M Ebhardt; J C Hondelijn; G M Kostner; Y Miyake; M Pocovi; H Schmidt; H Schuster; M Stuhrmann; T Yamamura; C Junien; C Béroud; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.