المؤلفون: A. Laadjimi, Cherine Charfeddine, Sonia Abdelhak, Neji Tebib, M.F. Ben Dridi, M. Keirallah, M. N. Guediche, M. Nilges, Kamel Monastiri, Mohamed Ridha Kamoun, Samir Boubaker, A. Ben Osman, Selma Kassar, Mourad Mokni, Naziha Kaabachi, O. Perin

المساهمون: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), CHU Fattouma Bourguiba [Monastir] (HFB), Hôpital La Rabta [Tunis], Bioinformatique structurale - Structural Bioinformatics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Hôpital Charles Nicolle [Tunis], This work was supported by the Tunisian Ministry of Scientific and Technological Research and, Development of Competencies (Research Unit on 'Molecular Investigation of Genetic Orphan Diseases' UR 26/04 and Research Unit on 'Study of Hereditary Keratinization Disorders' UR 24/04)., We thank the patients and family members., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2006, 88 (2), pp.184--91. ⟨10.1016/j.ymgme.2006.02.006⟩
Molecular Genetics and Metabolism, 2006, 88 (2), pp.184--91. ⟨10.1016/j.ymgme.2006.02.006⟩

مصطلحات موضوعية: Male, Models, Molecular, Clinical heterogeneity, Endocrinology, Diabetes and Metabolism, Mutant, medicine.disease_cause, Biochemistry, Consanguinity, 030207 dermatology & venereal diseases, Exon, 0302 clinical medicine, Endocrinology, Tyrosine aminotransferase, Pregnancy, Structural models, Haplotype analysis, Missense mutation, Child, Tyrosinemia type II, Genetics, 0303 health sciences, Mutation, Tyrosinemias, Phenotype, Pedigree, 3. Good health, Child, Preschool, Female, Amino acidemias, Adult, Tunisia, Molecular Sequence Data, Mutation, Missense, Biology, Mutation screening, 03 medical and health sciences, medicine, Humans, Amino Acid Sequence, Molecular Biology, Tyrosine Transaminase, 030304 developmental biology, medicine.disease, Molecular biology, Haplotypes, Tyrosine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Microsatellite Repeats

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https://hal.archives-ouvertes.fr/hal-01974010

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