Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.
par Abramowicz, Marc 
;Ribai A Nyam, Pascale ;Cordonnier, Monique
Référence American journal of medical genetics. Part A, 132A, 1, page (76-79)
Publication Publié, 2005-01
;Ribai A Nyam, Pascale ;Cordonnier, Monique Référence American journal of medical genetics. Part A, 132A, 1, page (76-79)
Publication Publié, 2005-01
Article révisé par les pairs
| Titre: |
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| Auteur: | Abramowicz, Marc; Ribai A Nyam, Pascale; Cordonnier, Monique |
| Informations sur la publication: | American journal of medical genetics. Part A, 132A, 1, page (76-79) |
| Statut de publication: | Publié, 2005-01 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Mots-clés: | Hemeralopia |
| Homozygosity mapping | |
| Nyctalopia | |
| ON pathway | |
| Synaptic connectivity | |
| MeSH keywords: | Child, Preschool |
| Chromosomes, Human, Pair 17 -- genetics | |
| Chromosomes, Human, Pair 7 -- genetics | |
| Chromosomes, Human, X -- genetics | |
| Consanguinity | |
| DNA Mutational Analysis | |
| Family Health | |
| Female | |
| Fragile X Mental Retardation Protein | |
| Genes, Recessive -- genetics | |
| Haplotypes | |
| Humans | |
| Linkage (Genetics) | |
| Male | |
| Microsatellite Repeats | |
| Nerve Tissue Proteins -- genetics | |
| Night Blindness -- congenital | |
| Night Blindness -- genetics | |
| Pedigree | |
| RNA-Binding Proteins -- genetics | |
| Receptors, Androgen -- genetics | |
| Trinucleotide Repeats -- genetics | |
| Note générale: | Case Reports |
| Journal Article | |
| Research Support, Non-U.S. Gov't | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1552-4825 |
| info:doi/10.1002/ajmg.a.30372 | |
| info:scp/11244318170 | |
| info:pmid/15551339 |
