Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis

American Journal of Medical Genetics

Volumn 132 A, Issue 1, 2005, Pages 76-79

  Abramowicz, Marc J ^a   Ribai, Pascale ^a   Cordonnier, Monique ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

Hemeralopia; Homozygosity mapping; Nyctalopia; ON pathway; Synaptic connectivity

Indexed keywords

DNA;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSANGUINITY; DNA DETERMINATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HISTOLOGY; HUMAN; LINKAGE ANALYSIS; MALE; NIGHT BLINDNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, X; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; NERVE TISSUE PROTEINS; NIGHT BLINDNESS; PEDIGREE; RECEPTORS, ANDROGEN; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 11244318170     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30372     Document Type: Article

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