Literature DB >> 8702162

A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).

Y Muragaki1, E C Mariman, S E van Beersum, M Perälä, J B van Mourik, M L Warman, B C Hamel, B R Olsen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8702162     DOI： 10.1111/j.1749-6632.1996.tb56291.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


× No keyword cloud information.
  3 in total

1.  The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.

Authors:  Yoichiro Takata; Yoshito Matsui; Daisuke Hamada; Tomohiro Goto; Takahiro Kubo; Hiroshi Egawa; Shunji Nakano; Fumio Shinomiya; Hiroshi Inoue; Mitsuo Itakura; Natsuo Yasui
Journal:  Clin Rheumatol       Date:  2005-10-25       Impact factor: 2.980

2.  A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Authors:  Guy Van Camp; Rikkert L Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi Fukuoka; Michio Wagatsuma; Hiroaki Suzuki; R M Erica Smets; Filip Vanhoenacker; Frank Declau; Paul Van de Heyning; Shin-ichi Usami
Journal:  Am J Hum Genet       Date:  2006-06-26       Impact factor: 11.025

3.  Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population.

Authors:  Tatiana I Axenovich; I V Zorkoltseva; N M Belonogova; M V Struchalin; A V Kirichenko; M Kayser; B A Oostra; C M van Duijn; Y S Aulchenko
Journal:  Hum Genet       Date:  2009-05-24       Impact factor: 4.132
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.