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

10.1186/1471-2350-12-49

Saved in:

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
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

id	sg-nus-scholar.10635-181638
record_format	dspace
spelling	sg-nus-scholar.10635-1816382023-10-31T21:21:55Z Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy Almind, G.J Grønskov, K Milea, D Larsen, M Brøndum-Nielsen, K Ek, J DUKE-NUS MEDICAL SCHOOL 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 Denmark 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 10.1186/1471-2350-12-49 BMC Medical Genetics 12 49 2020-10-27T11:33:17Z 2020-10-27T11:33:17Z 2011 Article Almind, G.J, Grønskov, K, Milea, D, Larsen, M, Brøndum-Nielsen, K, Ek, J (2011). Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Medical Genetics 12 : 49. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2350-12-49 14712350 https://scholarbank.nus.edu.sg/handle/10635/181638 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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 Denmark 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
spellingShingle	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 Denmark 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 Almind, G.J Grønskov, K Milea, D Larsen, M Brøndum-Nielsen, K Ek, J Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
description	10.1186/1471-2350-12-49
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Almind, G.J Grønskov, K Milea, D Larsen, M Brøndum-Nielsen, K Ek, J
format	Article
author	Almind, G.J Grønskov, K Milea, D Larsen, M Brøndum-Nielsen, K Ek, J
author_sort	Almind, G.J
title	Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
title_short	Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
title_full	Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
title_fullStr	Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
title_full_unstemmed	Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
title_sort	genomic deletions in opa1 in danish patients with autosomal dominant optic atrophy
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/181638
_version_	1781792574384635904

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

Similar Items