Literature DB >> 9356044

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.

J Magré1, C Karayanni, C G Hadjiathanasiou, C Desbois-Mouthon, M Meier, C Vigouroux, C Stavrinadis, C Sinaniotis, M Caron, J Capeau.   

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Year:  1997        PMID： 9356044     DOI： 10.2337/diab.46.11.1901

Source DB:  PubMed          Journal:  Diabetes        ISSN： 0012-1797            Impact factor:   9.461


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  3 in total

1.  First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Authors:  Olfa Siala-Sahnoun; Dhoha Dhieb; Afef Ben Thabet; Nedia Hmida; Neila Belguith; Faiza Fakhfakh
Journal:  Mol Biol Rep       Date:  2016-02-13       Impact factor: 2.316

2.  Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Authors:  O Ardon; M Procter; T Tvrdik; N Longo; R Mao
Journal:  Mol Genet Metab Rep       Date:  2014-02-11

3.  A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.

Authors:  Jing Jin; Xinxin Liang; Jie Wei; Lingling Xu
Journal:  Biomed Res Int       Date:  2021-02-25       Impact factor: 3.411
  3 in total

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