Novel nonsense mutation causes analbuminemia in a Moroccan family
- Author
- CAMPAGNOLI, Monica1 ; SALA, Alberto1 ; ROMANO, Assunta1 ; ROSSI, Antonio1 ; NAUTA, Jeroen2 ; KOOT, Bart G. P2 ; MINCHIOTTI, Lorenzo1 ; GALLIANO, Monica1
[1] Department of Biochemistry A. Castellani, University of Pavia, Pavia, Italy
[2] Department of Pediatric Nephrology, Erasmus MC, Sophia Children's Hospital, Rotterdam, Netherlands - Source
Clinical chemistry (Baltimore, Md.). 2005, Vol 51, Num 1, pp 227-229, 3 p ; ref : 13 ref
- CODEN
- CLCHAU
- ISSN
- 0009-9147
- Scientific domain
- Biochemistry, molecular biology, biophysics; Medical laboratory techniques; General medicine general surgery
- Publisher
- American Association for Clinical Chemistry, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biochimie Biologie clinique Biologie moléculaire Cause Etude familiale Mutation non sens
- Keyword (en)
- Biochemistry Clinical biology Molecular biology Cause Family study Nonsense mutation
- Keyword (es)
- Bioquímica Biología clínica Biología molecular Causa Estudio familiar Mutación sin sentido
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A02 Analytical, structural and metabolic biochemistry
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B24 Investigative techniques, diagnostic techniques (general aspects)
- Discipline
- Analytical, structural and metabolic biochemistry Scanning and diagnostic techniques
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16562120
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
10.1373/clinchem.2004.040873 
https://dx.doi.org/10.1373/clinchem.2004.040873
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