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Genotype–phenotype correlation in X‐linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
Author(s) -
Tsiakkis D,
Pieri M,
Koupepidou P,
Demosthenous P,
Panayidou K,
Deltas C
Publication year - 2012
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.1399-0004.2012.01849.x
Subject(s) - molecular genetics , medical genetics , missense mutation , genetics , human genetics , medicine , biology , phenotype , gene
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