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

Simone, Maria; Rabacchi, Claudio; Kuloğlu, ZARİFE; Kansu Tanca, AYDAN; Ensari, ARZU; Demir, ARZU; Hizal, Gulin; Di Leo, Enza; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia

doi:10.1016/j.jacl.2019.05.013

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)

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).