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Phenotype variation...
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Ponjavic, VesnaLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
(author)
Phenotype variation within a choroideremia family lacking the entire CHM gene
- Article/chapterEnglish1995
Publisher, publication year, extent ...
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2009-07-08
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Informa UK Limited,1995
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:4125486e-58bb-4e68-a99d-07457dae1cfa
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https://lup.lub.lu.se/record/1109728URI
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https://doi.org/10.3109/13816819509057855DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Abrahamson, MagnusLund University,Lunds universitet,Avdelningen för klinisk kemi och farmakologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Chemistry and Pharmacology,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kkem-mab
(author)
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Andréasson, StenLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)oft-san
(author)
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van Bokhoven, Hans
(author)
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Cremers, Frans P M
(author)
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Ehinger, BerndtLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)oft-beh
(author)
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Fex, Göran
(author)
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Oftalmologi, LundSektion IV
(creator_code:org_t)
Related titles
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In:Ophthalmic Genetics: Informa UK Limited16:4, s. 143-1501744-50941381-6810
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