Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis


ÇELTİKÇİ B., Aydin H. I. , Sivri S., Sonmez M., Topcu M., ÖZKARA H. A.

CLINICAL BIOCHEMISTRY, vol.45, pp.571-574, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45
  • Publication Date: 2012
  • Doi Number: 10.1016/j.clinbiochem.2011.12.019
  • Title of Journal : CLINICAL BIOCHEMISTRY
  • Page Numbers: pp.571-574

Abstract

Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype correlations.