A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
Reig
C
C
Servei Laboratori Genética, Hospital de Terrassa, Crta. Torrebonica s/n, 08227 Terrassa, Spain.
Martinez-Gimeno
M
M
Carballo
M
M
D017124:Conserved Sequence / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012374:Rod Cell Outer Segment; D013030:Spain; D059470:Tetraspanins; D014443:Tyrosine / Q000235:genetics
D005136:Eye Proteins; D008565:Membrane Proteins; C513106:ROM1 protein, human; D059470:Tetraspanins; D014443:Tyrosine; D003545:Cysteine