Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Fuentes
J J
JJ
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalonia, Spain.
Volpini
V
V
Fernández-Toral
F
F
Coto
E
E
Estivill
X
X
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002874:Chromosome Mapping; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013030:Spain; D014960:X Chromosome
D017931:DNA Primers