title: 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.
authors.affiliation: INSERM U.402, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Magré
authors.forename: C
authors.initials: C
authors.lastname: Karayanni
authors.forename: C G
authors.initials: CG
authors.lastname: Hadjiathanasiou
authors.forename: C
authors.initials: C
authors.lastname: Desbois-Mouthon
authors.forename: M
authors.initials: M
authors.lastname: Meier
authors.forename: C
authors.initials: C
authors.lastname: Vigouroux
authors.forename: C
authors.initials: C
authors.lastname: Stavrinadis
authors.forename: C
authors.initials: C
authors.lastname: Sinaniotis
authors.forename: M
authors.initials: M
authors.lastname: Caron
authors.forename: J
authors.initials: J
authors.lastname: Capeau
mesh_terms: 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
chemical_list: D007328:Insulin; D012333:RNA, Messenger; D011972:Receptor, Insulin