Artículo

Martínez-Mir, A.; Vilela, C.; Bayés, M.; Valverde, D.; Dain, L.; Beneyto, M.; Marco, M.; Baiget, M.; Grinberg, D.; Balcells, S.; Gonzàlez-Duarte, R.; Vilaseliu, L. "Putative association of a mutant ROM1 allele with retinitis pigmentosa" (1997) Human Genetics. 99(6):827-830
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Abstract:

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double-mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double-mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that question the potential pathogenicity of these two ROM1 mutations.

Registro:

Documento: Artículo
Título:Putative association of a mutant ROM1 allele with retinitis pigmentosa
Autor:Martínez-Mir, A.; Vilela, C.; Bayés, M.; Valverde, D.; Dain, L.; Beneyto, M.; Marco, M.; Baiget, M.; Grinberg, D.; Balcells, S.; Gonzàlez-Duarte, R.; Vilaseliu, L.
Filiación:Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 645, E-08071 Barcelona, Spain
Servicio de Neurofisiologia, Hospital Universitario La Fe, E-46009 Valencia, Spain
Unitat de Genètica Molecular, Hospital de la Santa Creu i Sant Pau, E-08025 Barcelona, Spain
Unidad de Genética, Hospital Universitario La Fe, E-46009 Valencia, Spain
Servicio de Oftalmología, Hosp. Clínico Universitario, Valencia, Spain
Depto. de Diagnostico Genetico, INGEM y FCEN UBA, Buenos Aires, Argentina
Palabras clave:membrane protein; mutant protein; article; case report; controlled study; female; gene mutation; genetic heterogeneity; human; human cell; priority journal; retina rod outer segment; retinitis pigmentosa; Adolescent; Adult; Alleles; Eye Proteins; Female; Humans; Male; Membrane Proteins; Middle Aged; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa; Rod Outer Segments
Año:1997
Volumen:99
Número:6
Página de inicio:827
Página de fin:830
DOI: http://dx.doi.org/10.1007/s004390050456
Título revista:Human Genetics
Título revista abreviado:HUM. GENET.
ISSN:03406717
CODEN:HUGED
CAS:Eye Proteins; Membrane Proteins; ROM1 protein, human
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03406717_v99_n6_p827_MartinezMir

Referencias:

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Citas:

---------- APA ----------
Martínez-Mir, A., Vilela, C., Bayés, M., Valverde, D., Dain, L., Beneyto, M., Marco, M.,..., Vilaseliu, L. (1997) . Putative association of a mutant ROM1 allele with retinitis pigmentosa. Human Genetics, 99(6), 827-830.
http://dx.doi.org/10.1007/s004390050456
---------- CHICAGO ----------
Martínez-Mir, A., Vilela, C., Bayés, M., Valverde, D., Dain, L., Beneyto, M., et al. "Putative association of a mutant ROM1 allele with retinitis pigmentosa" . Human Genetics 99, no. 6 (1997) : 827-830.
http://dx.doi.org/10.1007/s004390050456
---------- MLA ----------
Martínez-Mir, A., Vilela, C., Bayés, M., Valverde, D., Dain, L., Beneyto, M., et al. "Putative association of a mutant ROM1 allele with retinitis pigmentosa" . Human Genetics, vol. 99, no. 6, 1997, pp. 827-830.
http://dx.doi.org/10.1007/s004390050456
---------- VANCOUVER ----------
Martínez-Mir, A., Vilela, C., Bayés, M., Valverde, D., Dain, L., Beneyto, M., et al. Putative association of a mutant ROM1 allele with retinitis pigmentosa. HUM. GENET. 1997;99(6):827-830.
http://dx.doi.org/10.1007/s004390050456