Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.

Human mutation

Volumn 20, Issue 2, 2002, Pages 151-

  Heimerl, Susanne ^a   Langmann, Thomas ^a   Moehle, Christoph ^a   Mauerer, Richard ^a   Dean, Michael ^a   Beil, Frank Ulrich ^a   von Bergmann, Klaus ^a   Schmitz, Gerd ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCG5 PROTEIN, HUMAN; ABCG8 PROTEIN, HUMAN; LIPOPROTEIN; SIGNAL PEPTIDE; SITOSTEROL DERIVATIVE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CASE REPORT; EXON; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; CONSERVED SEQUENCE; EXONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LIPOPROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN SORTING SIGNALS; SEQUENCE ALIGNMENT; SITOSTEROLS;

EID: 0036676124     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9047     Document Type: Article

References (0)