Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: Homology with the nmf28/nmf28 mice model

Clinical Genetics

Volumn 78, Issue 5, 2010, Pages 495-498

  Corton, M ^a   Blanco, M J ^b   Torres, M ^a   Sanchez Salorio, M ^c   Carracedo, A ^a   Brion, M ^a,b  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^c Fundación Instituto Gallego de Oftalmología   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; PHOSPHODIESTERASE VI; PHOSPHODIESTERASE VIA; PHOSPHODIESTERASE VIB; RHO FACTOR; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINEOUS MARRIAGE; ELECTRORETINOGRAM; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; LETTER; MISSENSE MUTATION; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC DISK; PEDIGREE ANALYSIS; PHOTORECEPTOR; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; VISUAL IMPAIRMENT;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CONSANGUINITY; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID;

MUS;

EID: 78149272006     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01487.x     Document Type: Letter

References (10)

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