نتایج جستجو برای: novel mutation

تعداد نتایج: 1043934  

Journal: :Molecular and Clinical Oncology 2018

Journal: :British Journal of Ophthalmology 2014

Journal: :Diabetology & Metabolic Syndrome 2021

Abstract A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that 136th amino acid is highly conservative mutation deleterious. can result change channel port structure K ATP channel. So she was as -MODY.

Journal: :Journal of the Neurological Sciences 2008

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