Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.

Human mutation

Volumn 18, Issue 4, 2001, Pages 359-360

  Hubacek, J A ^a   Berge, K E ^a   Cohen, J C ^a   Hobbs, H H ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCG5 PROTEIN, HUMAN; ABCG8 PROTEIN, HUMAN; CHOLESTEROL; LIPOPROTEIN; SITOSTEROL; SITOSTEROL DERIVATIVE;

ARTICLE; BLOOD; CAUCASIAN; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; EXON; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; HUMAN; INTRON; MALE; MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING;

ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; HUMANS; INTRONS; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; MALE; MUTATION; POLYMORPHISM, GENETIC; RNA SPLICE SITES; SITOSTEROLS;

EID: 0035491250     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1206     Document Type: Article

References (0)