Titre :
  • Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
Auteur : Désir, Julie ; Moya, Graciela ; Reish, Orit ; Van Regemorter, Nicole ; Deconinck, Hilde ; David, Karen L ; Meire, Françoise M ; Abramowicz, Marc
Informations sur la publication : Journal of medical genetics, 44, 5, (page 322-326)
Statut de publication : Publié, 2007-05
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Abnormalities, Multiple -- genetics
Adolescent
Adult
Amino Acid Sequence
Anion Transport Proteins -- chemistry
Anion Transport Proteins -- genetics
Antiporters -- chemistry
Antiporters -- genetics
Base Sequence
Borates -- metabolism
Child
Child, Preschool
Corneal Dystrophies, Hereditary -- genetics
DNA Mutational Analysis
Endothelium -- abnormalities
Hearing Loss, Sensorineural -- genetics
Humans
Male
Molecular Sequence Data
Mutation -- genetics
Pedigree
Syndrome
Note : Journal Article
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:0022-2593 
info:doi/10.1136/jmg.2006.046904
info:pii/jmg.2006.046904
info:pmid/17220209