Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia


Semerci C. N. , Kalay E. , Yildirim C., Dinçer T. , Olmez A., Toraman B. , ...More

BRITISH JOURNAL OF OPHTHALMOLOGY, vol.98, pp.832-840, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 98
  • Publication Date: 2014
  • Doi Number: 10.1136/bjophthalmol-2013-304058
  • Title of Journal : BRITISH JOURNAL OF OPHTHALMOLOGY
  • Page Numbers: pp.832-840

Abstract

Aim This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.