Literature DB >> 3220381

[Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation].

U Steinhorst, A Kohlschütter, B Steinmann, D von Domarus.   

Abstract

Entities:  

Mesh：

Year:  1988        PMID： 3220381

Source DB:  PubMed          Journal:  Fortschr Ophthalmol        ISSN： 0723-8045


× No keyword cloud information.
  2 in total

1.  Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Authors:  Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Uri Nir; Haike Reznik-Wolf; Elon Pras
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

2.  ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Authors:  Marianne Rohrbach; Helen L Spencer; Louise F Porter; Emma M M Burkitt-Wright; Céline Bürer; Andreas Janecke; Madhura Bakshi; David Sillence; Hailah Al-Hussain; Matthias Baumgartner; Beat Steinmann; Graeme C M Black; Forbes D C Manson; Cecilia Giunta
Journal:  Mol Genet Metab       Date:  2013-04-26       Impact factor: 4.797
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.