Mustafa Sahin, Ph.D., M.D.
This page shows the publications Mustafa Sahin has written about Alleles.
Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. J Neurosci. 2019 11 20; 39(47):9294-9305.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575.
Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300.
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