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

Mutation Research - Mutation Research Genomics

Volumn 432, Issue 3-4, 2001, Pages 79-82

  De Luca, Alessandro ^a,c   Torrente, Isabella ^a,c   Mangino, Massimo ^a,c   Danesi, Rita ^b   Dallapiccola, Bruno ^c,d   Novelli, Giuseppe ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b Ospedale Infermi   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Mutations; Retinitis pigmentosa; RP2

Indexed keywords

ARTICLE; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; ITALY; MOLECULAR CLONING; MULTIGENE FAMILY; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

CODON, TERMINATOR; EXONS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ITALY; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; POINT MUTATION; PROTEINS; RETINITIS PIGMENTOSA; X CHROMOSOME;

EID: 0035130791     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(00)00007-8     Document Type: Article

References (23)

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4. X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
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6. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
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13. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
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15. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
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