Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

10.1186/1471-2350-12-49

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Bibliographic Details
Main Authors:	Almind, G.J, Grønskov, K, Milea, D, Larsen, M, Brøndum-Nielsen, K, Ek, J
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	2020
Subjects:	adult article autosomal dominant optic atrophy chromosome rearrangement clinical article Denmark DNA sequence family gene deletion gene mutation genetic screening genome human male multiplex ligation dependent probe amplification phenotype point mutation prevalence segregation analysis adolescent Caucasian child copy number variation female gene duplication gene locus genetics human genome middle aged pathology pathophysiology pedigree guanosine triphosphatase OPA1 protein, human Adolescent Adult Child DNA Copy Number Variations European Continental Ancestry Group Female Gene Duplication Genetic Loci Genome, Human GTP Phosphohydrolases Humans Male Middle Aged Optic Atrophy, Autosomal Dominant Pedigree Sequence Deletion Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/181638
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Institution:	National University of Singapore

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