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 İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Konu: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2017-0418
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.681-687

Özet

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