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CNGA3 mutations in hereditary cone photoreceptor disorders.
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11.Expand
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Positional cloning of the gene for X-linked retinitis pigmentosa 2
X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated byExpand
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
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 genesExpand
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Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
PURPOSE Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases.Expand
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
Mutations in the gene for fibrillin‐1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, andExpand
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Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
PURPOSE Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that featureExpand
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Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high‐frequency hearing impairment, normal balance function and progressive visual impairment dueExpand
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Identification of novel USH2A mutations: implications for the structure of USH2A protein
Usher syndrome type II is an autosomal recessive disorder, characterised by stable hearing impairment from childhood and progressive retinitis pigmentosa from the late teens. Mutations in the USH2AExpand
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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)
X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodesExpand
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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
Purpose The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland. MethodsExpand
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