A Novel Stop Codon Mutation in Exon 6 (c.508A&gt;T) of <i>TRAPPC2</i> gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report

Yasar D., GÜLERAY LAFCI N., Kucukali G. K., Yilmaz A. A., Donmez B. O., YAZAR B. T., ...Daha Fazla

HORMONE RESEARCH IN PAEDIATRICS, ss.163-164, 2023 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Özet
  • Basım Tarihi: 2023
  • Dergi Adı: HORMONE RESEARCH IN PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, Food Science & Technology Abstracts, MEDLINE, SportDiscus
  • Sayfa Sayıları: ss.163-164
  • Hacettepe Üniversitesi Adresli: Evet