Premium
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease
Author(s) -
MichelCalemard L,
Dijoud F,
Till M,
Lambert JC,
Vercherat M,
Tardy V,
Coubes C,
Morel Y
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01106.x
Subject(s) - genetics , mutation , gene , biology , genealogy , history