Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Kirk, J ^a   Porter, K M ^b   Parker, V ^b   Barroso, I ^c   O'Rahilly, S ^b   Hendriksz, C ^a   Semple, R K ^b  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CARRIER PROTEIN; INSR PROTEIN, HUMAN; INSULIN RECEPTOR; LEUKOCYTE ANTIGEN; MEMBRANE PROTEIN; MESSENGER RNA; NPC1 PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SEQUENCE; BLOOD; CASE REPORT; CELL CULTURE; CHILD; FEMALE; FIBROBLAST; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INSULIN RESISTANCE; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; ARTICLE; NIEMANN PICK DISEASE;

ADULT; AGED; AMINO ACID SEQUENCE; ANTIGENS, CD; BIOLOGICAL MARKERS; CARRIER PROTEINS; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INSULIN RESISTANCE; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PEDIGREE; PHENOTYPE; RECEPTOR, INSULIN; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX;

EID: 84897928384     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9107-5     Document Type: Article

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