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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
2
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pubmed:dateCreated |
2009-2-11
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pubmed:abstractText |
Pseudohypoaldosteronism type I (PHA1) is a rare inborn disease causing severe salt loss. Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far, no phenotype has been reported in heterozygous carriers.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Feb
|
|
pubmed:issn |
1365-2265
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
252-8
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pubmed:meshHeading |
pubmed-meshheading:18547339-Alleles,
pubmed-meshheading:18547339-Chlorides,
pubmed-meshheading:18547339-Epithelial Sodium Channel,
pubmed-meshheading:18547339-Female,
pubmed-meshheading:18547339-Heterozygote,
pubmed-meshheading:18547339-Humans,
pubmed-meshheading:18547339-Infant, Newborn,
pubmed-meshheading:18547339-Mutation, Missense,
pubmed-meshheading:18547339-Pedigree,
pubmed-meshheading:18547339-Phenotype,
pubmed-meshheading:18547339-Pseudohypoaldosteronism,
pubmed-meshheading:18547339-Sodium,
pubmed-meshheading:18547339-Sweat
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pubmed:year |
2009
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|
pubmed:articleTitle |
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
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pubmed:affiliation |
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts Universität zu Kiel, Kiel, Germany. friepe@pediatrics.uni-kiel.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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