Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alstrom syndrome

Tasdemir S., Guzel-Ozanturk A., Marshall J. D., Collin G. B., ÖZGÜL R. K., Narin N., ...More

CLINICAL GENETICS, vol.83, no.1, pp.96-98, 2013 (SCI-Expanded, Scopus)

• Publication Type: Article / Letter
• Volume: 83 Issue: 1
• Publication Date: 2013
• Doi Number: 10.1111/j.1399-0004.2012.01883.x
• Journal Name: CLINICAL GENETICS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.96-98
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes