Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Bernal
S
S
Servei de Genètica, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
Ayuso
C
C
Antiñolo
G
G
Gimenez
A
A
Borrego
S
S
Trujillo
M J
MJ
Marcos
I
I
Calaf
M
M
Del Rio
E
E
Baiget
M
M
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human