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Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

โœ Scribed by Alessandro De Luca; Isabella Torrente; Massimo Mangino; Rita Danesi; Bruno Dallapiccola; Giuseppe Novelli


Book ID
117767984
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
113 KB
Volume
432
Category
Article
ISSN
1383-5726

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Three novel mutations of theRPGR gene ex
โœ Yokoyama, Akiko ;Maruiwa, Futoshi ;Hayakawa, Mutsuko ;Kanai, Atsushi ;Vervoort, ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 257 KB ๐Ÿ‘ 2 views

We describe three new mutations in a recently identiยฎed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1ยฑ3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate