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Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa
Author(s) -
Borrego Salud,
Sánchez Beatriz,
Ruiz Agustín,
Antiñolo Guillermo
Publication year - 1996
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/(sici)1098-1004(1996)7:2<180::aid-humu17>3.0.co;2-z
Subject(s) - missense mutation , retinitis pigmentosa , university hospital , general hospital , medicine , pediatrics , genetics , family medicine , mutation , biology , gene