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Keyword [A mutation]
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21. Analysis Of A Family With MODY Caused By A Mutation In The INS Gene
22. Pathogenesis And Tissue Specificity Of 15927G>A Mutation In Mitochondria Associated With Coronary Artery Disease
23. Studies of cell migration and programmed cell death: characterization and analysis of scattershot, a mutation disrupting germ cell migration and programmed cell death in Drosophila melanogaster
24. A mutation in cytochrome c oxidase subunit VIa causes defective L-type calcium currents and Leigh syndrome-like phenotypes in Drosophila
25. The role of ER quality control and protein misfolding in retinal degeneration caused by a mutation in rhodopsin
26. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings
27. A mutation in the zebrafish choroideremia gene causes hair cell degeneration in the ear and lateral line organ
28. Diagnostic Odyssey: Investigating the Role of a Mutation in the CUL4B Gene and its Effect on the CUL4B Protein Complex in a Patient with Seizures and Developmental Delay
29. A Mutation In FKTN Causes Adult Onset Of Fukuyama Congenital Muscular Dystrophy With Epilepsy And Dilated Cardiomyopathy:Phenotypic And Genetic Analysis Of A Case Report
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