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Genetic heterogenei...
Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes
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- Jonsson, Frida (författare)
- Umeå universitet,Institutionen för medicinsk biovetenskap
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- Burstedt, Marie S (författare)
- Umeå universitet,Oftalmiatrik
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- Sandgren, Ola (författare)
- Umeå universitet,Oftalmiatrik
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- Norberg, Anna (författare)
- Umeå universitet,Institutionen för medicinsk biovetenskap
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- Golovleva, Irina (författare)
- Umeå universitet,Institutionen för medicinsk biovetenskap
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(creator_code:org_t)
- 2014-03-25
- 2014
- Engelska.
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Ingår i: Retinal Degenerative Diseases. - New York, NY : Springer Berlin/Heidelberg. - 9781461432098 - 9781461432081 ; , s. 177-183
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Genetic mechanisms underlying severe retinal dystrophy in a large Swedish family presenting two distinct phenotypes, Leber congenital amaurosis and Stargardt disease were investigated. In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C>T (p.Q853X) mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was a compound heterozygous for c.5461-10T>C and a novel ABCA4 mutation c.4773+3 A>G. Sequence analysis of the entire ABCA4 gene in patients with Stargardt disease revealed complex alleles with additional sequence variants.Our results provide evidence of genetic complexity causative of different clinical features present in the same family, which is an obvious challenge for ophthalmologists, molecular geneticists and genetic counsellors.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Nyckelord
- applanation resonance tonometry
- ART
- glaucoma
- intraocular pressure
- ISO standard
- tonometry
Publikations- och innehållstyp
- ref (ämneskategori)
- kon (ämneskategori)
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