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Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families
Author(s) -
Torra Roser,
Badenas Cèlia,
Peral Belén,
Darnell Alejandro,
Serra Eduard,
Gamble Vicki,
Turco Alberto E.,
Harris Peter C.,
Estivill Xavier
Publication year - 1998
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/humu.1380110139
Subject(s) - nonsense , general hospital , university hospital , nonsense mutation , medicine , family medicine , mutation , genetics , biology , missense mutation , gene