Open AccessIntrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations
Author(s) -
Marwa M Nabhan Susann Brenzinger
Publication year - 2015
Publication title -
journal of molecular biomarkers and diagnosis
Language(s) - English
Resource type - Journals
ISSN - 2155-9929
DOI - 10.4172/2155-9929.1000217
Subject(s) - loss function , genetics , function (biology) , biology , mutation , genetic heterogeneity , bioinformatics , medicine , computational biology , phenotype , gene