Literature DB >> 19135752

Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.

Wataru Ogawa1, Kazuya Iwamoto, Hiroyuki Mori, Mitsuru Hashiramoto, Kazuaki Miyake, Kazuhiko Sakaguchi, Masato Kasuga.   

Abstract

We describe two sisters with type A insulin resistance. In contrast to common situation for this genetic disorder, the sisters harbored compound heterozygous mutations in the insulin receptor gene associated with mild glucose intolerance. The cases highlight the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.

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Year:  2009        PMID: 19135752     DOI: 10.1016/j.diabres.2008.12.002

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN: 0168-8227            Impact factor:   5.602


  1 in total

1.  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
  1 in total

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