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Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the α-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...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Copyright 2003 British Journal of Ophthalmology
2003
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1771876/ https://ncbi.nlm.nih.gov/pubmed/14609822 |
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