Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review

Objective: To summarize the genotype and clinical characteristics of chylomicron retention disease (CMRD) caused by secretion associated Ras related GTPase 1B (SAR1B) gene variations. Methods: Clinical data and genetic testing results of 2 children with CMRD treated at Children's Hospital of Fu...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 6 vom: 02. Juni, Seite 565-570
Auteur principal:	Zhang, Y Q (Auteur)
Autres auteurs:	Wu, L T, Cheng, Y, Lu, Y, Li, Y C, Feng, J Y, Xing, Q H, Li, W J, Wang, J S
Format:	Article en ligne
Langue:	Chinese
Publié:	2024
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Journal Article Case Reports Review English Abstract SAR1B protein, human EC 3.6.1.- Monomeric GTP-Binding Proteins EC 3.6.5.2