Title : Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.

Pub. Date : 2019 Mar

PMID : 30241959






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Steroids NPHS2 stomatin family member, podocin Homo sapiens
2 Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Steroids NPHS2 stomatin family member, podocin Homo sapiens