Open AccessMO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
Author(s) -
Amber de Haan,
Mark Eijgelsheim,
Patrick Rump,
Bert van der Zwaag,
Martina Živná,
Stanislav Kmoch,
Anthony J. Bleyer,
Kendrah Kidd,
Albertien M. van Eerde,
Nine V.A.M. Knoers,
Martin H. de Borst
Publication year - 2022
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfac062.015
Subject(s) - medicine , frameshift mutation , kidney disease , massive parallel sequencing , genetics , bioinformatics , phenotype , gene , biology , dna sequencing
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