Literature DB >> 11439918

A new pedigree with recessive mapping to CHED2 locus on 20p13.

M D Mohamed, M McKibbin, H Jafri, Y Rasheed, C G Woods, C F Inglehearn.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11439918      PMCID： PMC1724010          DOI： 10.1136/bjo.85.6.754d

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


× No keyword cloud information.
  5 in total

1.  Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Authors:  Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

2.  SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Authors:  Sabika Firasat; Wajid Ali Khan; Ume Sughra; Haiba Kaul; Shagufta Naz; Bushra Noreen; Rutaba Gul; Kiran Afshan
Journal:  Mol Biol Rep       Date:  2021-10-12       Impact factor: 2.316

Review 3.  Genetics of the corneal endothelial dystrophies: an evidence-based review.

Authors:  A J Aldave; J Han; R F Frausto
Journal:  Clin Genet       Date:  2013-06-10       Impact factor: 4.438

4.  Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

Authors:  Arun Kumar; Soma Bhattacharjee; Durgappa Ravi Prakash; Chethan Sitarampur Sadanand
Journal:  Mol Vis       Date:  2007-01-16       Impact factor: 2.367

Review 5.  SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.

Authors:  Sangita P Patel; Mark D Parker
Journal:  Biomed Res Int       Date:  2015-09-16       Impact factor: 3.411
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.