Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus
- Author
- FAERCH, Mia1 2 ; CORYDON, Thomas J1 ; RITTIG, SØren2 ; CHRISTENSEN, Jane H1 2 ; HERTZ, Jens Michael3 ; JENDLE, Johan4
[1] Department of Human Genetics, Aarhus University, Denmark
[2] Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark
[3] Department of Clinical Genetics, Aarhus University Hospital, Denmark
[4] Faculty of Health Sciences, Örebro University Hospital, Sweden - Source
Scandinavian journal of urology and nephrology. 2010, Vol 44, Num 5, pp 324-330, 7 p ; ref : 25 ref
- CODEN
- SJUNAS
- ISSN
- 0036-5599
- Scientific domain
- Urology, nephrology
- Publisher
- Taylor & Francis, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Arginine vasopressin receptor 2 congenital nephrogenic diabetes insipidus phenotype skewed X-chromosome inactivation
- Keyword (fr)
- Arginine Chromosome X Congénital Diabète insipide néphrogénique Diagnostic Inactivation Néphrologie Phénotype Récepteur biologique Urologie Vasopressine Aminoacide Hormone neurohypophysaire Neuropeptide Pathologie de l'appareil urinaire Pathologie du rein
- Keyword (en)
- Arginine X-Chromosome Congenital Nephrogenic diabetes insipidus Diagnosis Inactivation Nephrology Phenotype Biological receptor Urology Vasopressin Aminoacid Neurohypophyseal hormone Neuropeptide Urinary system disease Kidney disease
- Keyword (es)
- Arginina Cromosoma X Congénito Diabetes insípida nefrogenica Diagnóstico Inactivación Nefrología Fenotipo Receptor biológico Urología Vasopresina Aminoácido Hormona neurohipofisaria Neuropéptido Aparato urinario patología Riñón patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14E Urinary system involvement in other diseases. Miscellaneous / 002B14E01 Kidneys
- Discipline
- Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23328975
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.3109/00365599.2010.482946 
https://dx.doi.org/10.3109/00365599.2010.482946
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