Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Journal of medical genetics

Volumn 40, Issue 1, 2003, Pages

  Bernal, S ^a   Ayuso, C ^a   Antinolo G ^a   Gimenez, A ^a   Borrego, S ^a   Trujillo, M J ^a   Marcos, I ^a   Calaf, M ^a   Del Rio, E ^a   Baiget, M ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL TRIAL; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; RECESSIVE GENE; RETINITIS PIGMENTOSA; SPAIN; STOP CODON;

ADULT; AMINO ACID SUBSTITUTION; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; SPAIN; VARIATION (GENETICS);

EID: 0037268763     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.1.e8     Document Type: Article

References (0)