A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

Hazan F., ÖZTÜRK A. T., Adibelli H., Unal N., Tukun A.

MOLECULAR VISION, vol.19, pp.196-202, 2013 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 19
  • Publication Date: 2013
  • Journal Name: MOLECULAR VISION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.196-202
  • Dokuz Eylül University Affiliated: Yes

Abstract

Purpose: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1).