KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Identifieur interne : 007A30 ( Ncbi/Curation ); précédent : 007A29; suivant : 007A31KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Auteurs : Huan Hu [République populaire de Chine] ; Xueshan Xiao [République populaire de Chine] ; Shiqiang Li [République populaire de Chine] ; Xiaoyun Jia [République populaire de Chine] ; Xiangming Guo [République populaire de Chine] ; Qingjiong Zhang [République populaire de Chine]Source :
- The British journal of ophthalmology [ 1468-2079 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Amorces ADN (), Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Exome (génétique), Femelle, Humains, Kinésine (génétique), Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Rétinopathies (diagnostic), Rétinopathies (génétique), Techniques de génotypage.
- MESH :
- diagnostic : Rétinopathies.
- génétique : Exome, Kinésine, Rétinopathies.
- Adulte, Amorces ADN, Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Femelle, Humains, Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Techniques de génotypage.
English descriptors
- KwdEn :
- Adult, Child, Codon, Nonsense, DNA Mutational Analysis, DNA Primers (chemistry), Exome (genetics), Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Kinesin (genetics), Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction, Retinal Diseases (diagnosis), Retinal Diseases (genetics).
- MESH :
- chemical , chemistry : DNA Primers.
- chemical , genetics : Kinesin.
- chemical : Codon, Nonsense.
- diagnosis : Retinal Diseases.
- genetics : Exome, Retinal Diseases.
- Adult, Child, DNA Mutational Analysis, Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction.
Abstract
To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.
DOI: 10.1136/bjophthalmol-2015-306878
PubMed: 26472404
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<term>Exome (genetics)</term>
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<term>Amorces ADN ()</term>
<term>Analyse de mutations d'ADN</term>
<term>Angiographie fluorescéinique</term>
<term>Codon non-sens</term>
<term>Enfant</term>
<term>Exome (génétique)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Kinésine (génétique)</term>
<term>Mosaïcisme</term>
<term>Mutation avec décalage du cadre de lecture</term>
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<term>Phénotype</term>
<term>Réaction de polymérisation en chaîne</term>
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<term>Rétinopathies (génétique)</term>
<term>Techniques de génotypage</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Retinal Diseases</term>
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<term>Retinal Diseases</term>
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<term>Kinésine</term>
<term>Rétinopathies</term>
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<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Fluorescein Angiography</term>
<term>Frameshift Mutation</term>
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<term>Analyse de mutations d'ADN</term>
<term>Angiographie fluorescéinique</term>
<term>Codon non-sens</term>
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<term>Femelle</term>
<term>Humains</term>
<term>Mosaïcisme</term>
<term>Mutation avec décalage du cadre de lecture</term>
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<front><div type="abstract" xml:lang="en">To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.</div>
</front>
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