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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.

作者信息

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

机构信息

INSERM U.402, Paris, France.

出版信息

Diabetes. 1997 Nov;46(11):1901-3. doi: 10.2337/diab.46.11.1901.

DOI:10.2337/diab.46.11.1901
PMID:9356044
Abstract
摘要

相似文献

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Impaired insulin signaling in the B10.D2--/oSnJ mouse model of complement factor 5 deficiency.补体因子 5 缺乏症 B10.D2--/oSnJ 小鼠模型中的胰岛素信号转导受损。
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Sequencing analysis of insulin receptor defects and detection of two novel mutations in gene.
胰岛素受体缺陷的测序分析及该基因中两个新突变的检测
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