المؤلفون: Nizar Ben Halim, Mbarka Bchetnia, Khaled Lasram, Daniele Castiglia, Nadia Laroussi, Sonia Abdelhak, Lilia Romdhane, Rym Kefi, Mounira Meddeb Cherif, Houyem Ouragini, Mohamed Samir Boubaker, Hamida Turki, Ahlem Sabrine Ben Brick, Alain Hovnanian, Salaheddine Marrakchi, Hela Mesrati

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Department of Dermatology, Hedi Chaker Hospital [Sfax], Laboratory of Medical Genetics, Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IRCCS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by the Tunisian Ministry of Higher Education and Scientific Research (Laboratory on ‘‘Biomedical Genomics and Oncogenetics’’ LR11IPT05) and the Tunisian Ministry of Public Health, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory ( LR11IPT05 ), Université Tunis El Manar ( UTM ) -Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), Hedi Chaker Hospital, Istituto Dermopatico dell'Immacolata ( IRCCS ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université Tunis El Manar (UTM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Archives of Dermatological Research
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, MESH: Founder Effect, 030207 dermatology & venereal diseases, Consanguinity, 0302 clinical medicine, Recessive dystrophic epidermolysis bullosa, COL7A1, MESH : Epidermolysis Bullosa Dystrophica/genetics, MESH : Female, MESH : Skin/pathology, MESH: DNA Mutational Analysis, MESH : Collagen Type VII/genetics, Skin, Genetics, 0303 health sciences, MESH: Epidermolysis Bullosa Dystrophica/genetics, MESH: Collagen Type VII/genetics, General Medicine, Founder effect, Novel mutations, MESH: Epidermolysis Bullosa Dystrophica/pathology, 3. Good health, Epidermolysis Bullosa Dystrophica, Pedigree, [ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Codon, Nonsense, Mutation (genetic algorithm), Carcinoma, Squamous Cell, Female, MESH : Mutation, MESH: Tunisia, Collagen Type VII, Tunisia, MESH: Mutation, MESH: Pedigree, MESH : Male, MESH : Founder Effect, Genes, Recessive, Dermatology, MESH : DNA Mutational Analysis, Biology, MESH : Epidermolysis Bullosa Dystrophica/pathology, MESH : Carcinoma, Squamous Cell/complications, 03 medical and health sciences, MESH : Tunisia, MESH : Consanguinity, Humans, Allele, Gene, MESH : Haplotypes, Alleles, MESH: Genes, Recessive, 030304 developmental biology, MESH: Consanguinity, MESH: Skin/pathology, MESH: Codon, Nonsense/genetics, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], [ SDV ] Life Sciences [q-bio], MESH: Alleles, Haplotype, MESH : Humans, MESH : Genes, Recessive, MESH: Haplotypes, MESH: Male, MESH : Codon, Nonsense/genetics, MESH: Carcinoma, Squamous Cell/complications, Haplotypes, MESH : Pedigree, Mutation, MESH : Alleles, [ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology, Recessive dystrophic epidermolysis bullosa severe generalized, MESH: Female, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dadbed3d4ad3a3a003b9a9cda16fb6f
https://hal-riip.archives-ouvertes.fr/pasteur-01061249

المؤلفون: Ben Brick, Ahlem Sabrine, Laroussi, Nadia, Mesrati, Hela, Kefi, Rym, Bchetnia, Mbarka, Lasram, Khaled, Ben Halim, Nizar, Romdhane, Lilia, Ouragini, Houyem, Marrakchi, Salaheddine, Boubaker, Mohamed Samir, Meddeb Cherif, Mounira, Castiglia, D., Hovnanian, Alain, Abdelhak, Sonia, Turki, Hamida

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur), Department of Dermatology, Hedi Chaker Hospital Sfax (CHU Sfax), Laboratory of Medical Genetics, Laboratory of Molecular and Cell Biology, Istituto dermopatico dell'immacolata (IDI-IRCCS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by the Tunisian Ministry of Higher Education and Scientific Research (Laboratory on ‘‘Biomedical Genomics and Oncogenetics’’ LR11IPT05) and the Tunisian Ministry of Public Health

المصدر: ISSN: 0340-3696.

مصطلحات موضوعية: Recessive dystrophic epidermolysis bullosa severe generalized, COL7A1, Novel mutations, Founder effect, MESH: Alleles, MESH: Carcinoma, Squamous Cell/complications, MESH: Codon, Nonsense/genetics, MESH: Collagen Type VII/genetics, MESH: Consanguinity, MESH: DNA Mutational Analysis, MESH: Epidermolysis Bullosa Dystrophica/genetics, MESH: Epidermolysis Bullosa Dystrophica/pathology, MESH: Female, MESH: Founder Effect, MESH: Genes, Recessive, MESH: Haplotypes, MESH: Humans, MESH: Male, MESH: Mutation, MESH: Pedigree, MESH: Skin/pathology, MESH: Tunisia, [SDV]Life Sciences [q-bio], [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

Relation: info:eu-repo/semantics/altIdentifier/pmid/24170138; PUBMED: 24170138

الاتاحة: https://riip.hal.science/pasteur-01061249
https://doi.org/10.1007/s00403-013-1421-y