WFRF:(Lev D.)
Sökning: WFRF:(Lev D.) > (2005-2009) > CNGB3 mutations acc...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04022naa a2200709 4500 | |
| 001 | oai:lup.lub.lu.se:3b360761-c902-47f7-8dc1-bbb0862905df | |
| 003 | SwePub | |
| 008 | 160401s2005 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/2537292 URI |
| 024 | 7 | a https://doi.org/10.1038/sj.ejhg.52012692 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Kohl, S4 aut |
| 245 | 1 0 | a CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia |
| 264 | c 2004-12-15 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2005 |
| 520 | a Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a total | |
| 653 | a rod monochromacy | |
| 653 | a achromatopsia | |
| 653 | a CNGB3 mutations | |
| 653 | a ACHM3 locus | |
| 653 | a colorblindness | |
| 653 | a cyclic nucleotide-gated channel | |
| 700 | 1 | a Varsanyi, B4 aut |
| 700 | 1 | a Antunes, G A4 aut |
| 700 | 1 | a Baumann, B4 aut |
| 700 | 1 | a Hoyng, C B4 aut |
| 700 | 1 | a Jagle, H4 aut |
| 700 | 1 | a Rosenberg, T4 aut |
| 700 | 1 | a Kellner, U4 aut |
| 700 | 1 | a Lorenz, B4 aut |
| 700 | 1 | a Salati, R4 aut |
| 700 | 1 | a Jurklies, B4 aut |
| 700 | 1 | a Farkas, A4 aut |
| 700 | 1 | a Andréasson, Stenu Lund 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 Medicine4 aut0 (Swepub:lu)oft-san |
| 700 | 1 | a Weleber, R G4 aut |
| 700 | 1 | a Jacobson, S G4 aut |
| 700 | 1 | a Rudolph, G4 aut |
| 700 | 1 | a Castellan, C4 aut |
| 700 | 1 | a Dollfus, H4 aut |
| 700 | 1 | a Legius, E4 aut |
| 700 | 1 | a Anastasi, M4 aut |
| 700 | 1 | a Bitoun, P4 aut |
| 700 | 1 | a Lev, D4 aut |
| 700 | 1 | a Sieving, P A4 aut |
| 700 | 1 | a Munier, F L4 aut |
| 700 | 1 | a Zrenner, E4 aut |
| 700 | 1 | a Sharpe, L T4 aut |
| 700 | 1 | a Cremers, F P M4 aut |
| 700 | 1 | a Wissinger, B4 aut |
| 710 | 2 | a Oftalmologi, Lundb Sektion IV4 org |
| 773 | 0 | t European Journal of Human Geneticsd : Springer Science and Business Media LLCg 13:3, s. 302-308q 13:3<302-308x 1476-5438x 1018-4813 |
| 856 | 4 | u http://dx.doi.org/10.1038/sj.ejhg.5201269y FULLTEXT |
| 856 | 4 | u https://www.nature.com/articles/5201269.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/253729 |
| 856 | 4 8 | u https://doi.org/10.1038/sj.ejhg.5201269 |
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- Kohl, S
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- Rosenberg, T
- Kellner, U
- Lorenz, B
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