Worapoj Jinda Naravat Poungvarin Todd D Taylor Yutaka Suzuki Wanna Thongnoppakhun Chanin Limwongse Patcharee Lertrit Prapat Suriyaphol La-Ongsri Atchaneeyasakul
Mol Vis
2016 Apr 21;22:342-51.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/27122965/
Codon, Initiator / genetics Mutation, Missense Proto-Oncogene Proteins / genetics Receptor Protein-Tyrosine Kinases / genetics Retinitis Pigmentosa / genetics
Codon, Initiator / genetics Mutation, Missense Proto-Oncogene Proteins / genetics Receptor Protein-Tyrosine Kinases / genetics Retinitis Pigmentosa / genetics Case Reports Research Support, Non-U.S. Gov't Adult Consanguinity Exome / genetics Fluorescein Angiography HEK293 Cells Humans Male Pedigree Proto-Oncogene Proteins / metabolism Receptor Protein-Tyrosine Kinases / metabolism Retinitis Pigmentosa / diagnosis Retinitis Pigmentosa / metabolism Sequence Analysis, DNA Tomography, Optical Coherence Transfection c-Mer Tyrosine Kinase Codon, Initiator Proto-Oncogene Proteins MERTK protein, human Receptor Protein-Tyrosine Kinases c-Mer Tyrosine Kinase
PMC4842005
27122965
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa
2016