التفاصيل البيبلوغرافية
العنوان:
'Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance'
المؤلفون:
Manuel Garza-León , Lucas A Garza-Garza , Rafael B. R. León-Cachón , Marcelino Aguirre-Garza
المصدر:
Ophthalmic Genetics . 41:183-188
بيانات النشر:
Informa UK Limited, 2020.
سنة النشر:
2020
مصطلحات موضوعية:
Adult , Male , 0301 basic medicine , Best's disease , Adolescent , genetic structures , Penetrance , Vitelliform macular dystrophy , 030105 genetics & heredity , BEST1 gene , Biology , 03 medical and health sciences , 0302 clinical medicine , medicine , Humans , Bestrophins , Child , Genotype-Phenotype Correlations , Genetic Association Studies , Genetics (clinical) , Genetics , Autosomal dominant trait , Prognosis , medicine.disease , eye diseases , Pedigree , Vitelliform Macular Dystrophy , Ophthalmology , Mutation , Pediatrics, Perinatology and Child Health , Mutation (genetic algorithm) , 030221 ophthalmology & optometry , Female
الوصف:
Purpose: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the BEST1 gene. We report a family with variable expressivity a...
تدمد:
1744-5094
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce64af202f7a119adf8cd3bf3d41e6dTest https://doi.org/10.1080/13816810.2020.1744020Test
رقم الانضمام:
edsair.doi.dedup.....4ce64af202f7a119adf8cd3bf3d41e6d
قاعدة البيانات:
OpenAIRE
