A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.

Shantanu Kale,Sweta Budyal,Rajeev Kasaliwal,Vyankatesh Shivane,Vijaya Raghavan,Anurag Lila,Tushar Bandgar,Nalini Shah

Growth Hormone & IGF Research（2014）

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摘要

•A novel gross indel in the GHRHR gene of Indian Isolated Growth Hormone Deficiency (IGHD) patients.•Same novel indel in two non-consanguineous, unrelated Indian families - a rare situation.•First indel in the GHRHR which affected promoter region and signal peptide of the GHRHR.

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关键词

Novel gross indel,GHRHR,IGHD,Indian

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