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A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
Author(s) -
Reig Carlos,
MartinezGimeno María,
Carballo Miguel
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200009)16:3<278::aid-humu29>3.0.co;2-g
Subject(s) - mutation , biology , genetics , retinitis pigmentosa , gene