Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

  • Adeel Ahmad
  • Shakeela Daud
  • Naseebullah Kakar
  • Gudrun Nürnberg
  • Peter Nürnberg
  • Masroor Ellahi Babar
  • Michaela Thoenes
  • Christian Kubisch
  • Jamil Ahmad
  • Hanno Jörn Bolz

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Abstract

To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.

Bibliographical data

Original languageEnglish
ISSN1090-0535
Publication statusPublished - 2011
pubmed 21850168