Five novel ALMS1 gene mutations in six patients with Alstrom syndrome

Kilinc S., Yucel-Yilmaz D., Ardagil A., Apaydin S., Valverde D., ÖZGÜL R. K., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.6, ss.681-687, 2018 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2017-0418
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.681-687
  • Anahtar Kelimeler: ALMS1 gene, Alstrom syndrome, cirrhosis, cone-rod dystrophy, gallstones, obesity, type 2 diabetes mellitus, PHENOTYPE, DEGENERATION, VARIABILITY
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Alstrom syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.