A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Genetic Testing And Molecular Biomarkers
Ramkumar, Hema L HL; Gudiseva, Harini V HV; Kishaba, Kameron T KT; Suk, John J JJ; Verma, Rohan R; Tadimeti, Keerti K; Thorson, John A JA; Ayyagari, Radha R
Publication Date: 2017-02
Variant appearance in text: ABCA4: Thr1726AspfsX61
Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.
Investigative Ophthalmology & Visual Science
Huang, Wei Chieh WC; Cideciyan, Artur V AV; Roman, Alejandro J AJ; Sumaroka, Alexander A; Sheplock, Rebecca R; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG