Seventeen novel mutations that cause profound biotinidase deficiency
| Autor: | G. Hüner, S Scholl, Ewa Pronicka, Jolanta Sykut-Cegielska, Terttu Suormala, S. Schweitzer, Anibh M. Das, E. R. Baumgartner, Magdalena Ugarte, T. Baykal, Barry Wolf, P Divry, M.-O Rolland, M. Demirkol, Kevin P. Jensen, Rachel Straussberg, Celia Pérez-Cerdá, Lina Basel-Vanagaite |
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| Rok vydání: | 2002 |
| Předmět: |
Genotype
Endocrinology Diabetes and Metabolism Mutation Missense Biotin Biology medicine.disease_cause Biochemistry Amidohydrolases Endocrinology Genetics medicine Humans Missense mutation Frameshift Mutation Molecular Biology Gene Sequence Deletion chemistry.chemical_classification Biotinidase Deficiency Mutation Biotinidase Biotinidase deficiency Infant Newborn Infant medicine.disease Amino acid Phenotype Amino Acid Substitution chemistry Child Preschool |
| Zdroj: | Molecular Genetics and Metabolism. 77:108-111 |
| ISSN: | 1096-7192 |
| Popis: | We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined. |
| Databáze: | OpenAIRE |
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