A novel exon mutation in the human β-hexosaminidase β subunit gene affects 3' splice site selection
- Author
- WAKAMATSU, N; KOBAYASHI, H; MIYATAKE, T; TSUJI, S
Niigata univ., brain res. inst., dep. neurology, Asahimachi, Niigata 951, Japan - Source
The Journal of biological chemistry (Print). 1992, Vol 267, Num 4, pp 2406-2413 ; ref : 76 ref
- CODEN
- JBCHA3
- ISSN
- 0021-9258
- Scientific domain
- Biochemistry, molecular biology, biophysics; Biotechnology
- Publisher
- American Society for Biochemistry and Molecular Biology, Bethesda, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractérisation Epissage Exon Gangliosidose Homme Mutation Séquence aminoacide Séquence nucléotide β-N-Acetyl-D-hexosaminidase Gène HEXB Maladie Sandhoff Enzyme
- Keyword (en)
- Characterization Splicing Exon Gangliosidosis Human Mutation Aminoacid sequence Nucleotide sequence β-N-Acetyl-D-hexosaminidase Enzyme
- Keyword (es)
- Caracterización Empalme Exón Gangliosidosis Hombre Mutación Secuencia aminoácido Secuencia nucleótido β-N-Acetyl-D-hexosaminidase Enzima
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C07 Mutagenesis. Repair
- Discipline
- Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 5564216
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
10.1016/S0021-9258(18)45894-2 
https://dx.doi.org/10.1016/S0021-9258(18)45894-2
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