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المصدر: Human Mutation. 12:128-134
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Biology, Polymerase Chain Reaction, Keratitis, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, Lymphocytes, Eye Proteins, Frameshift Mutation, Gene, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Sequence (medicine), Homeodomain Proteins, Blood Cells, Single-strand conformation polymorphism, Exons, Sequence Analysis, DNA, medicine.disease, eye diseases, Hypoplasia, DNA-Binding Proteins, Repressor Proteins, Phenotype, Aniridia, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9100c0a2e9923f51ecd09a7e77d8d29dTest
https://doi.org/10.1002Test/(sici)1098-1004(1998)12:2<128::aid-humu8>3.0.co;2-n -
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المؤلفون: Isabel M. Hanson
المصدر: Genetical Research. 75:253-254
مصطلحات موضوعية: medicine.medical_specialty, Human disease, Anthropology, Genetics, medicine, Medical genetics, General Medicine, Sociology, Transcription factor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d13b052c8ed7fc4936a1b2efeb35b74Test
https://doi.org/10.1017/s0016672300219186Test -
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المؤلفون: Isabel M. Hanson, Liesel M. FitzGerald, John H. Fingert, Joanne L. Dickinson, Michèle M. Sale, David A. Mackey, Veronica van Heyningen, Jacinta C. Charlesworth, Sarah J. Matthews, Jamie E Craig
المصدر: Human Mutation. 20:322-322
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, genetic structures, DNA Mutational Analysis, Biology, Cytosine, Genetic variation, Genetics, medicine, Humans, Paired Box Transcription Factors, Eye Proteins, Aniridia, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Genetic Variation, Partial aniridia, medicine.disease, eye diseases, Hypoplasia, Pedigree, Repressor Proteins, Phenotype, medicine.anatomical_structure, Mutation, Mutation (genetic algorithm), Mutation testing, Female, sense organs, PAX6, Transcription Factors, Optic disc
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10adca17bd4ef0b2aa478070df74310Test
https://doi.org/10.1002/humu.9066Test