Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus.

No abstract is available for this paper.

• Publication year

  2011

• Venue

  International Journal of Clinical and Experimental Medicine

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  PMID 21394280PMCID PMC3048978
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.

  2011cited by this paper
• DUB‐1, a fate determinant of dynein heavy chain in B‐lymphocytes, is regulated by the ubiquitin–proteasome pathway

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• Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

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• Urinary exosomes protein cargo as biomarkers of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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• Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus

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• Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.

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• Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree

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