Blue cone monochromacy: Causative mutations and associated phenotypes

PURPOSE: To perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease. METHODS: Affected members of three British families with BCM were examined clinically and underwent detailed elect...

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Hlavní autoři: Gardner, Jessica C., Michaelides, Michel, Holder, Graham E., Kanuga, Naheed, Webb, Tom R., Mollon, John D., Moore, Anthony T., Hardcastle, Alison J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2009
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2676201/
https://ncbi.nlm.nih.gov/pubmed/19421413
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