Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis
- Author
- MONICO, Carla G1 ; ROSSETTI, Sandro2 ; SCHWANZ, Heidi A3 ; OLSON, Julie B1 ; LUNDQUIST, Patrick A4 ; BRIAN DAWSON, D4 ; HARRIS, Peter C2 ; MILLINER, Dawn S1
[1] Mayo Clinic Hyperoxaluria Center, United States
[2] Department of Biochemistry and Molecular Biology, Division of Nephrology, United States
[3] Luther College, Decorah, Iowa, United States
[4] Clinical Molecular Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, United States - Source
Journal of the American Society of Nephrology. 2007, Vol 18, Num 6, pp 1905-1914, 10 p ; ref : 37 ref
- CODEN
- JASNEU
- ISSN
- 1046-6673
- Scientific domain
- Urology, nephrology
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diagnostic Dépistage Faisabilité Gène Génétique Hyperoxalurie Mutation Oxalate Primaire Urologie Néphrologie Enzymopathie Maladie héréditaire Métabolisme pathologie
- Keyword (en)
- Diagnosis Medical screening Feasibility Gene Genetics Hyperoxaluria Mutation Oxalate Primary Urology Nephrology Enzymopathy Genetic disease Metabolic diseases
- Keyword (es)
- Diagnóstico Descubrimiento Practicabilidad Gen Genética Hiperoxaluria Mutación Oxalato Primario Urología Nefrología Enzimopatía Enfermedad hereditaria Metabolismo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18842076
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
10.1681/ASN.2006111230 
https://dx.doi.org/10.1681/ASN.2006111230
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