Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
Alasti
Fatemeh
F
The Department of Medical Genetics, The University of Antwerp, Universiteitsplein, 1, 2610, Antwerp, Belgium. fatemeh.alasti@ua.ac.be
Peeters
Nils
N
Wuyts
Wim
W
Sanati
Mohammad Hossein
MH
Van Camp
Guy
G
D003062:Codon / Q000235:genetics; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007501:Iron; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D000076988:Sulfate Transporters
D003062:Codon; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D007501:Iron