X-LINKED RETINITIS PIGMENTOSA (RP3): SCREENING FOR NEW MUTATIONS AND PROMOTER ANALYSIS OF RPGR GENE
- 2 Anni 1997/1999
- 82.633€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1998 BRITISH JOURNAL OF OPHTHALMOLOGY
Ocular signs associated with a rhodopsin mutation (Cys-167 -> Arg) in a family with autosomal dominant retinitis pigmentosa
- 1999 EUROPEAN JOURNAL OF HUMAN GENETICS
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
- 1998 CYTOGENETICS AND CELL GENETICS
Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22
- 1999 CYTOGENETICS AND CELL GENETICS
Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene
- 1998 CLINICAL GENETICS
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
- 1998 EUROPEAN JOURNAL OF HUMAN GENETICS
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse
- 1999 EUROPEAN JOURNAL OF HUMAN GENETICS
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family