Hereditary eye disease

Citations 71-73 of 73 total displayed.

Original articles
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

Jean-Michet Rozet, Sylvie Gerber, Imad Ghazi, Isabelle Perrault, Dominique Ducroq, Eric Souied, Annick Cabot, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan
J. Med. Genet. 1999; 36: 447-451. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?

A P J Thomson, M Neugebauer, A Fryer
J. Med. Genet. 1999; 36: 251-252. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Homozygosity mapping to the USH2A locus in two isolated populations

T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, L Tranebjærg
J. Med. Genet. 1999; 36: 144-147. [Abstract] [Full text] [PDF] [Request Permissions]