Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites.
Magré
J
J
INSERM U.402, Paris, France.
Karayanni
C
C
Hadjiathanasiou
C G
CG
Desbois-Mouthon
C
C
Meier
M
M
Vigouroux
C
C
Stavrinadis
C
C
Sinaniotis
C
C
Caron
M
M
Capeau
J
J
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D002648:Child; D005091:Exons; D005190:Family; D005260:Female; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D018392:Genomic Imprinting; D006801:Humans; D007328:Insulin / Q000378:metabolism*; D007333:Insulin Resistance / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism; D011972:Receptor, Insulin / Q000235:genetics* / Q000378:metabolism
D007328:Insulin; D012333:RNA, Messenger; D011972:Receptor, Insulin