Novel mutations of SAR1B gene in four children with chylomicron retention disease

Simone M. L., Rabacchi C., Kuloğlu Z., Kansu Tanca A., Ensari A., Demir A. M., ...Daha Fazla

JOURNAL OF CLINICAL LIPIDOLOGY, cilt.13, sa.4, ss.554-562, 2019 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.jacl.2019.05.013
  • Dergi Adı: JOURNAL OF CLINICAL LIPIDOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.554-562
  • Anahtar Kelimeler: Recessive hypobetalipoproteinemia, Chylomicrons, Intestinal fat malabsorption, SAR1B gene, Consanguinity, FAMILIAL HYPOBETALIPOPROTEINEMIA, GTPASE
  • Ankara Üniversitesi Adresli: Evet

Özet

BACKGROUND: Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease).