Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 48, Issue 3, 2009, Pages 370-373

  Treepongkaruna, Suporn ^a   Chongviriyaphan, Nalinee ^a   Suthutvoravut, Umaporn ^a   Charoenpipop, Dussadee ^a   Choubtum, Lulin ^a   Wattanasirichaigoon, Duangrurdee ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; CHYLOMICRON; LIPOPROTEIN; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; SAR1B PROTEIN, HUMAN; TRIACYLGLYCEROL;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHYLOMICRON RETENTION DISEASE; GENE; HUMAN; HYPOBETALIPOPROTEINEMIA; INFANT; LIPOPROTEIN METABOLISM; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SAR1B GENE; SEQUENCE ALIGNMENT; ANIMAL; BLOOD; GENETICS;

ANIMALS; CHYLOMICRONS; HUMANS; HYPOBETALIPOPROTEINEMIAS; INFANT; LIPOPROTEINS; MALE; MONOMERIC GTP-BINDING PROTEINS; MUTATION, MISSENSE; TRIGLYCERIDES;

EID: 67650382105     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e318183188f     Document Type: Article

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