Asp-190-Tyr mutation in the rodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis;Mutación Asp-190-Tyr en el gen de la rodopsina en una familia española afectada de retinosis pigmentaria autosómica dominante

Medicina Clinica

Volumn 115, Issue 18, 2000, Pages 699-703

  Gimeno, María Martínez ^a   Trujillo, M José ^b   Sandoval, Blanca García ^c   Del Río, Teresa ^c   Maseras, Miquel ^c   Ayuso, Carmen ^c   Carballo, Miguel ^a  

^a HOSPITAL DE TERRASSA   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c Serv de Lab Hospital de Terrassa ^*

Author keywords

Autosomal dominant retinitis pigmentosa; Inherited retinal dysthrophies; Molecular genetics

Indexed keywords

RHODOPSIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; CYTOGENETICS; FEMALE; GENE EXPRESSION; GENETICS; HUMAN; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PRESCHOOL CHILD; RETINITIS PIGMENTOSA; X CHROMOSOME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CYTOGENETICS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; RETINITIS PIGMENTOSA; RHODOPSIN; X CHROMOSOME;

EID: 0041488725     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0025-7753(00)71668-x     Document Type: Article

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