A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease
| Autor: | George H. Thomas, Roy A. Gravel, Zhi Xin Zhang, Nobuaki Wakamatsu, Beverly R. Akerman, Emily H. Mules |
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| Rok vydání: | 1995 |
| Předmět: |
Male
β n acetylhexosaminidase Heterozygote DNA Complementary Molecular Sequence Data Sandhoff disease Biology Gangliosidosis medicine.disease_cause Infantile Sandhoff Disease Hexosaminidase B Genetics medicine Humans Molecular Biology Gene Genetics (clinical) DNA Primers Sequence Deletion Mutation Base Sequence Homozygote Infant Sandhoff Disease General Medicine medicine.disease beta-N-Acetylhexosaminidases HEXB Female |
| Zdroj: | Human Molecular Genetics. 4:777-780 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/4.4.777 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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