Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
AIM: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. METHODS: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fun...
| Główni autorzy: | , , , , , , , |
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| Format: | Journal article |
| Język: | English |
| Wydane: |
2003
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