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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2006-11-22
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pubmed:abstractText |
Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-10425039,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-10820168,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-11754100,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-12414899,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-1356229,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-1534149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-1534150,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-15556674,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-16651370,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-8037205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-8570618,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-8766937,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-9207020,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-9326934,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17101063-9369448
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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 |
1471-2156
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
53
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17101063-Adult,
pubmed-meshheading:17101063-Asian Continental Ancestry Group,
pubmed-meshheading:17101063-Base Sequence,
pubmed-meshheading:17101063-China,
pubmed-meshheading:17101063-Chromosome Breakage,
pubmed-meshheading:17101063-Chromosomes, Human, X,
pubmed-meshheading:17101063-DNA Mutational Analysis,
pubmed-meshheading:17101063-Diabetes Insipidus, Nephrogenic,
pubmed-meshheading:17101063-Female,
pubmed-meshheading:17101063-Gene Deletion,
pubmed-meshheading:17101063-Humans,
pubmed-meshheading:17101063-Male,
pubmed-meshheading:17101063-Molecular Sequence Data,
pubmed-meshheading:17101063-Pedigree,
pubmed-meshheading:17101063-Receptors, Vasopressin
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pubmed:year |
2006
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pubmed:articleTitle |
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
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pubmed:affiliation |
Department of Endocrinology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China. yandongnb@yahoo.com.cn <yandongnb@yahoo.com.cn>
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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