Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
A Martínez Mir, E Paloma, R Allikmets, C Ayuso, T Río… - 1998 - digital.csic.es
NG 5422 final text Page 1 1 Retinitis pigmentosa caused by a homozygous inactivating mutation
in the Stargardt disease g ene ABCR Amalia Martínez-Mir1*, Eva Paloma1*, Rando Allikmets2,
Carmen Ayuso3, Teresa del Río3, Michael Dean4, Lluïsa Vilageliu1, Roser Gonzàlez-Duarte1
& Susana Balcells1 1 Departament de Gen tica, Facultat de Biologia, Universitat de Barcelona,
E-08071 Spain. Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer
Research and Development Center, Frederick, Maryland 21702, USA. Departamento de …
in the Stargardt disease g ene ABCR Amalia Martínez-Mir1*, Eva Paloma1*, Rando Allikmets2,
Carmen Ayuso3, Teresa del Río3, Michael Dean4, Lluïsa Vilageliu1, Roser Gonzàlez-Duarte1
& Susana Balcells1 1 Departament de Gen tica, Facultat de Biologia, Universitat de Barcelona,
E-08071 Spain. Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer
Research and Development Center, Frederick, Maryland 21702, USA. Departamento de …
Retinitis pigmentosa denotes a group of inherited eye disorders characterized by loss of rod photoreceptor function, leading to a progressive degeneration of the retina. We describe a consanguineous arRP family carrying two putative ABCR null alleles.
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