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Region Hovedstaden - en del af Københavns Universitetshospital
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Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

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  1. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

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  2. Vitamin A in Stargardt disease-an evidence-based update

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Leber hereditary optic neuropathy due to a new ND1 mutation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Blue cone monochromatism in a female due to skewed X-inactivation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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  3. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Permanent muscle weakness in hypokalemic periodic paralysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy. Diagnostic genotyping of ABCA4 is complicated by the large size of the gene and the existence of approximately 600 known pathogenic variations, along with numerous rare polymorphisms. A commercial diagnostic array-based assay has been developed targeting known mutations, however a conclusive genetic diagnosis must rely on a comprehensive genetic screening as the mutation spectrum of ABCA4-related retinopathies continues to expand.
OriginalsprogEngelsk
TidsskriftOphthalmic Genetics
Vol/bind33
Udgave nummer4
Sider (fra-til)225-31
Antal sider7
ISSN1381-6810
DOI
StatusUdgivet - 2012

ID: 36821681