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Paper Details

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Eur J Pediatr
9
2016
1-desamino-8-D AVP, AVP,, AVPR2, AVPR2 c, AVPR2 exon 2, AVPR2 messenger RNA, AVPR2 mutations, AVPR2 splice site mutation, AVPR2 variants, DDAVP, HEK293 human kidney cells, NDI, OMIM, X-linked NDI, X-linked nephrogenic diabetes insipidus, arginine, arginine vasopressin (, boy, boys, c.276A>G, desmopressin, diabetes insipidus, failure to thrive, human, mRNA, minigene, patients, polydipsia, polyuria, splice acceptor site, splice site variant
Author NameAffiliation
David R AdamsNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
David R AdamsNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Gretchen GolasNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Thomas C MarkelloNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
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