Late onset retinitis pigmentosa

Ophthalmology

Volumn 118, Issue 12, 2011, Pages 2523-2524

  Ávila Fernández, Almudena ^a   Cortón, Marta ^a   López Molina, María I ^a   Martín Garrido, Esther ^a   Cantalapiedra, Diego ^a   Fernández Sánchez, Ruth ^a   Blanco Kelly, Fiona ^a   Riveiro Álvarez, Rosa ^a   Tatu, Sorina D ^a   Trujillo Tiebas, María J ^a   García Sandoval, Blanca ^a   Ayuso, Carmen ^a   Cremers, Frans P M ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SPATA7 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 14; ELECTRORETINOGRAPHY; FAMILY; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; LETTER; NIGHT BLINDNESS; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; ONSET AGE; PERIPHERAL VISION; PHENOTYPE; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA MALFORMATION; RETINITIS PIGMENTOSA; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT;

ADULT; CHROMOSOMES, HUMAN, PAIR 14; CODON, NONSENSE; CONSANGUINITY; DNA-BINDING PROTEINS; ELECTRORETINOGRAPHY; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOD SCORE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA;

EID: 82755164504     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.07.030     Document Type: Letter

References (5)

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2. H. Wang, A.I. den Hollander, and Y. Moayedi Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa Am J Hum Genet 84 2009 380 387
3. I. Perrault, S. Hanein, and X. Gerard Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype Hum Mutat 31 2010 E1241 E1250
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5. C.M. Louie, G. Caridi, and V.S. Lopes AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis Nat Genet 42 2010 175 180