Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 del99
- Author
- KOZICH, V1 ; JANOSIK, M1 ; SOKOLOVA, J1 ; OLIVERIUSOVA, J1 ; ORENDAC, M1 ; KRAUS, J. P2 ; ELLEDER, D1
[1] Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
[2] Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado, United States - Conference title
- Annual Meeting of the Society for the Study in Inborn Errors of Metabolism
- Conference name
- Annual Meeting of the Society for the Study in Inborn Errors of Metabolism (34 ; Cardiff 1996-09-10)
- Author (monograph)
- Society for the Study of Inborn Errors of Metabolism (Funder/Sponsor)
- Source
Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 363-366 ; ref : 7 ref
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Allèle Gène Homme Homocystinurie Mutation Slovaque Tchèque Aminoacidopathie Encéphale pathologie Enzymopathie Maladie héréditaire Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Allele Gene Human Homocystinuria Mutation Slovaque Czech Aminoacid disorder Cerebral disorder Enzymopathy Genetic disease Metabolic diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Alelo Gen Hombre Homocistinuria Mutación Eslovaco Checo Aminoacido alteración Encéfalo patología Enzimopatía Enfermedad hereditaria Metabolismo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2791732
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
10.1023/A:1005325911665 
https://dx.doi.org/10.1023/A:1005325911665
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