Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP)

A study was made of two families with autosomal dominant retinitis pigmentosa (ADRP) from Valencia (Spain). One family (ADRP15) was found to have a mutation in codon 114 of the rhodopsin gene that led to a substitution of a glycine for an aspartic acid. The second family (ADRP7) substituted an aspar...

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Veröffentlicht in:	Ophthalmic genetics 1996, Vol.17 (1), p.29-33
Hauptverfasser:	Vilela, Concha, Beneyto, Magdalena, Bosch, Rosabel, Millan, Jose M., Marco, Marina, Vallet, Miguel, Alonso, Luis, Tormos, Isidro, Najera, Carmen, Vails, Beatriz, Paricio, Nuria, Prieto, Felix
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult autosomal dominant (AD) Child Child, Preschool Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 6 Female Genes, Dominant Genetic Linkage Humans Male Middle Aged Pedigree peripherin-RDS Polymorphism, Single-Stranded Conformational Retinitis pigmentosa (RP) Retinitis Pigmentosa - genetics Retinitis Pigmentosa - pathology rhodopsin Rhodopsin - genetics
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