Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations

PURPOSE: (1) To evaluate the spectrum of BEST1mutations within Australian Best Disease or vitelliform macular dystrophy (VMD) pedigrees, including any novel mutations; (2) to analyse the range of clinical presentations of this cohort; (3) to determine any possible genotype–phenotype correlations and...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Cohn, A C, Turnbull, C, Ruddle, J B, Guymer, R H, Kearns, L S, Staffieri, S, Daggett, H T, Hewitt, A W, Mackey, D A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2011
Aiheet:
Clinical Study
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169215/
https://ncbi.nlm.nih.gov/pubmed/21109774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2010.180
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