Mutation of the FOXC2 gene in familial distichiasis.
Identifieur interne : 001725 ( Ncbi/Curation ); précédent : 001724; suivant : 001726Mutation of the FOXC2 gene in familial distichiasis.
Auteurs : Brian P. Brooks [États-Unis] ; Susan L. Dagenais ; Christine C. Nelson ; Michael W. Glynn ; Mark S. Caulder ; Catherine A. Downs ; Thomas W. GloverSource :
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [ 1091-8531 ] ; 2003.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adénine, Analyse de mutations d'ADN, Cils (anatomopathologie), Cils (malformations), Codon (génétique), Cytosine, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Malformations oculaires (anatomopathologie), Malformations oculaires (génétique), Mutation, Mâle, Pedigree, Protéines de liaison à l'ADN (génétique), Séquence nucléotidique (génétique).
- MESH :
- anatomopathologie : Cils, Malformations oculaires.
- génétique : Codon, Facteurs de transcription, Malformations oculaires, Protéines de liaison à l'ADN, Séquence nucléotidique.
- malformations : Cils.
- Adolescent, Adulte, Adénine, Analyse de mutations d'ADN, Cytosine, Facteurs de transcription Forkhead, Femelle, Humains, Mutation, Mâle, Pedigree.
English descriptors
- KwdEn :
- Adenine, Adolescent, Adult, Base Sequence (genetics), Codon (genetics), Cytosine, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Eye Abnormalities (genetics), Eye Abnormalities (pathology), Eyelashes (abnormalities), Eyelashes (pathology), Female, Forkhead Transcription Factors, Humans, Male, Mutation, Pedigree, Transcription Factors (genetics).
- MESH :
- chemical , genetics : Codon, DNA-Binding Proteins, Transcription Factors.
- chemical : Adenine, Cytosine, Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Base Sequence, Eye Abnormalities.
- pathology : Eye Abnormalities, Eyelashes.
- Adolescent, Adult, DNA Mutational Analysis, Female, Humans, Male, Mutation, Pedigree.
Abstract
To examine the FOXC2 gene in a family with hereditary distichiasis.
DOI: 10.1016/S1091853103001447
PubMed: 14566319
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pubmed:14566319Le document en format XML
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