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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2009-12-17
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pubmed:abstractText |
Steroid-resistant nephrotic syndrome (SRNS) is an inherent deficiency of podocyte caused by mutations of genes encoding slit diaphragm proteins. Mutations in NPHS2, encoding podocin, have been identified as responsible for childhood-onset familial SRNS. The present study revealed the genotype of a Chinese pedigree with autosomal recessive (AR) SRNS and reported a novel disease-causing NPHS2 mutation.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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|
pubmed:issn |
1465-3931
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
41
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
661-5
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pubmed:meshHeading |
pubmed-meshheading:20001346-Asian Continental Ancestry Group,
pubmed-meshheading:20001346-DNA Mutational Analysis,
pubmed-meshheading:20001346-Drug Resistance,
pubmed-meshheading:20001346-Family Health,
pubmed-meshheading:20001346-Female,
pubmed-meshheading:20001346-Genes, Recessive,
pubmed-meshheading:20001346-Glucocorticoids,
pubmed-meshheading:20001346-Humans,
pubmed-meshheading:20001346-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:20001346-Male,
pubmed-meshheading:20001346-Membrane Proteins,
pubmed-meshheading:20001346-Nephrotic Syndrome,
pubmed-meshheading:20001346-Pedigree,
pubmed-meshheading:20001346-Point Mutation
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pubmed:year |
2009
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|
pubmed:articleTitle |
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.
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pubmed:affiliation |
Division of Renal Disease, Department of Internal Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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