Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1001-1006

  Zenteno, Juan Carlos ^a,b   Buentello Volante, Beatriz ^b   Ayala Ramirez, Raul ^b   Villanueva Mendoza, Cristina ^c  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^c HOSPITAL DR LUIS SÁNCHEZ BULNES   (Mexico)

Author keywords

CRB1; Genome wide SNP homozygosity mapping; Nanophthalmos; Retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CRUMBS HOMOLOGUE 1 GENE; FAMILIAL DISEASE; FEMALE; GENE; GENE MAPPING; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MICROPHTHALMIA; NONSENSE MUTATION; NYSTAGMUS; OPHTHALMOSCOPY; OPTIC DISK ANOMALY; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFRACTION ERROR; RETINA DETACHMENT; RETINA PIGMENT DEGENERATION; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL DISORDER;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MICROPHTHALMOS; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 79954986202     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33862     Document Type: Article

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