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Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome

OBJECTIVE: Defects in the insulin receptor (INSR) gene cause various severe insulin resistance conditions, including Donohue syndrome (DS), Rabson-Mendenhall syndrome (RMS) and type A insulin resistance (type A-IR). This study aimed to investigate the clinical characterization and molecular defects...

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Detalles Bibliográficos
Autores principales:	Zhou, Qiaoli, Yu, Jing, Yuan, Xuewen, Wang, Chunli, Zhu, Ziyang, Zhang, Aihua, Gu, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8117416/ https://www.ncbi.nlm.nih.gov/pubmed/33995269 http://dx.doi.org/10.3389/fendo.2021.606964

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