Literature DB >> 8834239

SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: polymorphisms detected in South African black and white subjects.

V R Panz1, P Ruff, B I Joffe, M A Kedda, H C Seftel.   

Abstract

The frequency of DNA polymorphisms in the tyrosine kinase domain (exons 17-21) of the insulin receptor gene was assessed in 30 black and 30 white South Africans, using single-stranded conformation polymorphism and direct sequencing analysis. A comparison of the frequencies of the normal versus the combined polymorphic alleles, found only in exon 17, showed a significant difference between black and white groups (P = 0.037).

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Year:  1996        PMID: 8834239     DOI: 10.1007/bf02267063

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  12 in total

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5.  Genetic variation in insulin receptor beta-chain exons among members of familial type 2 (non-insulin-dependent) diabetic pedigrees.

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Journal:  Diabetologia       Date:  1991-10       Impact factor: 10.122

6.  Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction.

Authors:  S Seino; M Seino; G I Bell
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7.  Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.

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8.  Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.

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10.  Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.

Authors:  T Haruta; Y Takata; M Iwanishi; H Maegawa; T Imamura; K Egawa; T Itazu; M Kobayashi
Journal:  Diabetes       Date:  1993-12       Impact factor: 9.461

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