-
XB5
Susana
Balcells Comas
Publications by the researcher in collaboration with Susana Balcells Comas (7)
1997
-
Putative association of a mutant ROM1 allele with retinitis pigmentosa
Human Genetics, Vol. 99, Núm. 6, pp. 827-830
1996
-
A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family
Human Genetics, Vol. 97, Núm. 1, pp. 35-38
-
Autosomal recessive retinitis pigmentosa in Spain: Evaluation of four genes and two loci involved in the disease
Clinical Genetics, Vol. 50, Núm. 5, pp. 380-387
-
Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a spanish family with autosomal recessive retinitis pigmentosa
Human Mutation, Vol. 8, Núm. 4, pp. 393-394
1995
-
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
Human Genetics, Vol. 96, Núm. 1, pp. 89-94
-
Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
Human Mutation, Vol. 5, Núm. 3, pp. 228-234
1994
-
Genetic fine localization of the arrestin (S-antigen) gene 4 c M distal from D2S172
Human Genetics, Vol. 94, Núm. 2, pp. 193-194