Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
Walker
J L
JL
Department of Biochemistry, University of Oxford, U.K.
Dixon
J
J
Fenton
C R
CR
Hungerford
J
J
Lynch
S A
SA
Stenhouses
S A
SA
Christian
A
A
Craig
I W
IW
D001766:Blindness / Q000235:genetics; D005091:Exons; D005124:Eye Abnormalities / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins