Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
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ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.The Genetics of Nephrotic Syndrome.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.APOL1-G1 in Nephrocytes Induces Hypertrophy and Accelerates Cell Death.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Monogenic Causes of Proteinuria in Children.
P2860
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P2860
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
description
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Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@en
Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@nl
type
label
Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@en
Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@nl
prefLabel
Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@en
Unique X-linked familial FSGS ...... h a mutation in the NXF5 gene.
@nl
P2093
P2860
P50
P356
P1476
Unique X-linked familial FSGS ...... th a mutation in the NXF5 gene
@en
P2093
Alan Parnham
Dianne Moses
Hannah C Cox
Maria P Rastaldi
Sara Magliocca
Thomas Titus
P2860
P304
P356
10.1093/HMG/DDT215
P50
P577
2013-05-16T00:00:00Z