Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
- Author
- SCHLINGMANN, Karl P1 ; SASSEN, Martin C1 ; METZGER, Daniel L7 ; RAHMAN, Shamima8 ; TAJIMA, Toshihiro9 ; SHU, San-Ging9 ; WALDEGGER, Siegfried1 ; SEYBERTH, Hannsjoerg W1 ; KONRAD, Martin10 ; WEBER, Stefanie1 2 ; PECHMANN, Ulla1 ; KUSCH, Kerstin1 ; PELKEN, Lutz1 ; LOTAN, Daniel3 ; SYRROU, Maria4 ; PREBBLE, Jeffrey J5 ; COLE, David E. C6
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, Province of China
[1] Department of Pediatrics, Philipps-University Marburg, Marburg, Germany
[2] Pediatric Nephrology, University Children's Hospital Heidelberg, Heidelberg, Germany
[3] Pediatric Nephrology, The Chaim Sheba Medical Center, Tel-Hashomer, Israel
[4] Laboratory of General Biology, Medical School, University of Ioannina, Ioannina, Greece
[5] Department of Pediatrics, Toowoomba Base Hospital, Toowoomba, Australia
[6] Department of Laboratory Medicine & Pathobiology, University of Toronto, Ontario, Canada
[7] Pediatric Endocrinology, British Columbia Children's Hospital, Vancouver, British Columbia, Canada
[8] Hospital for Children Great Ormond Street, London, United Kingdom
[9] Department of Pediatrics, Hokkaido University Medical School, Sapporo, Japan
[10] Pediatric Nephrology, University Children's Hospital, Inselspital Bern, Switzerland - Source
Journal of the American Society of Nephrology. 2005, Vol 16, Num 10, pp 3061-3069, 9 p ; ref : 31 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)
- Calcium Elément minéral Etude familiale Gène Génotype Homme Hypocalcémie Hypomagnésémie Magnésium Mutation Urologie Gène TRPM6 Néphrologie Génétique Maladie héréditaire Trouble métabolisme Trouble équilibre hydroélectrolytique
- Keyword (en)
- Calcium Inorganic element Family study Gene Genotype Human Hypocalcemia Hypomagnesemia Magnesium Mutation Urology Nephrology Genetics Genetic disease Metabolic disorder Hydroelectrolytic balance disorder
- Keyword (es)
- Calcio Elemento inorgánico Estudio familiar Gen Genotipo Hombre Hipocalcemia Hipomagnesemia Magnesio Mutación Urología Nefrología Genética Enfermedad hereditaria Trastorno metabolismo Trastorno equilibrio hidroelectrolítico
- 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 / 002B22E Other metabolic disorders / 002B22E03 Metals (hemochromatosis...)
- Discipline
- Metabolic diseases Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17166944
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.2004110989 
https://dx.doi.org/10.1681/ASN.2004110989
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