A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.


Kaygusuz E., Khayyat A. I. A., Abdullah U., Budde B. S., Asif M., Ahmed I., ...More

Clinical genetics, vol.100, no.4, pp.486-488, 2021 (SCI-Expanded, Scopus)

  • Publication Type: Article / Letter
  • Volume: 100 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.1111/cge.14028
  • Journal Name: Clinical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.486-488
  • Bilecik Şeyh Edebali University Affiliated: Yes