-
1
المؤلفون: E C Landels, A H Fensom, M Bobrow, Peter M. Green, I H Ellis
المصدر: Journal of Medical Genetics. 29:563-567
مصطلحات موضوعية: Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Transcription, Genetic, RNA Splicing, Molecular Sequence Data, Population, Mutant, Biology, medicine.disease_cause, Polymerase Chain Reaction, Genetics, medicine, Humans, Hexosaminidase, education, Gene, Genetics (clinical), education.field_of_study, Mutation, Tay-Sachs Disease, Splice site mutation, Base Sequence, Tay-Sachs disease, Intron, DNA, medicine.disease, United Kingdom, beta-N-Acetylhexosaminidases, humanities, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48bdc85cc6af5882c4e325cbad9dd5eb
https://doi.org/10.1136/jmg.29.8.563 -
2
المؤلفون: E C Landels, I H Ellis, M Bobrow, A H Fensom
المصدر: Journal of Medical Genetics. 28:101-109
مصطلحات موضوعية: Hot Temperature, Analyser, Centrifugation, Cell Separation, Biology, Acetylglucosamine, Automation, chemistry.chemical_compound, Hexosaminidase A, Pregnancy, Prenatal Diagnosis, Obligate carrier, Leukocytes, Genetics, medicine, Humans, Hexosaminidase, Genetic Testing, Genetics (clinical), Hymecromone, chemistry.chemical_classification, Glucosamine, Tay-Sachs Disease, Chromatography, Genetic Carrier Screening, Tay-Sachs disease, Substrate (chemistry), Flow Cytometry, medicine.disease, beta-N-Acetylhexosaminidases, Enzyme assay, Enzyme, Biochemistry, chemistry, biology.protein, Female, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608523e4050efe66a0346bdcd86b74f3
https://doi.org/10.1136/jmg.28.2.101 -
3
المؤلفون: I H Ellis, E C Landels, Michael M. Kaback, Karen Zeiger, Joyce Lim-Steele, M Bobrow, Peter M. Green, A H Fensom, Nancy Levy
المصدر: Journal of Medical Genetics. 30:479-481
مصطلحات موضوعية: endocrine system, RNA Splicing, Donor splice site, Biology, Hexosaminidase A, Blind study, Genetics, medicine, Humans, Point Mutation, Genetics (clinical), Tay-Sachs Disease, Wales, Splice site mutation, Point mutation, Tay-Sachs disease, Intron, medicine.disease, HEXA, Introns, United States, beta-N-Acetylhexosaminidases, England, Scotland, Mutation (genetic algorithm), Ireland, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ebe0586c83da455993658f1c759ad3
https://doi.org/10.1136/jmg.30.6.479 -
4
المؤلفون: Batsheva Bonne-Tamir, A Mascisch, Karen Zeiger, M Vienozinskis, Peter Hechtman, A Zoossman-Diskin, Feige Kaplan, M Bobrow, E C Landels, Michael M. Kaback, M Fernandes, Charles R. Scriver, D Lee, Joyce Lim-Steele, S Kapoor
المصدر: European journal of human genetics : EJHG. 1(4)
مصطلحات موضوعية: Genetics, Polymorphism, Genetic, Tay-Sachs Disease, Base Sequence, Tay-Sachs disease, Molecular Sequence Data, Chromosome, Biology, medicine.disease, HEXA, Ashkenazi jews, beta-N-Acetylhexosaminidases, Restriction enzyme, Hexosaminidase A, Polymorphism (computer science), medicine, Humans, Allele, Deoxyribonucleases, Type II Site-Specific, Gene, Genetics (clinical), Alleles
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ca7479190a89f5e849107a763367e2
https://pubmed.ncbi.nlm.nih.gov/8081943 -
5
المؤلفون: A H Fensom, M Bobrow, E C Landels, I H Ellis, Peter M. Green
المصدر: Journal of medical genetics. 28(3)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Population, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Exon, Gene Frequency, Genetics, Lysosomal storage disease, medicine, Humans, Hexosaminidase, splice, Genetic Testing, education, Genetics (clinical), Mutation, education.field_of_study, Splice site mutation, Tay-Sachs Disease, Base Sequence, Tay-Sachs disease, nutritional and metabolic diseases, Exons, medicine.disease, Introns, United Kingdom, beta-N-Acetylhexosaminidases, Jews, North America, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37929c55959e3c3d7294269521b4552
https://pubmed.ncbi.nlm.nih.gov/1828838