Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family
スポンサーリンク
概要
- 論文の詳細を見る
- 2009-05-01
著者
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OURAGINI Houyem
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
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CHERIF Faika
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
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KASSAR Selma
Service d'Anatomo-Pathologie, Institut Pasteur de Tunis
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FLORIDDIA Giovanna
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
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PASCUCCI Monica
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
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DAOUD Wafa
Service de Dermatologie, Hopital La Rabta de Tunis
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OSMAN-DHAHRI Amel
Service de Dermatologie, Hopital La Rabta de Tunis
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BOUBAKER Samir
Service d'Anatomo-Pathologie, Institut Pasteur de Tunis
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CASTIGLIA Daniele
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
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ABDELHAK Sonia
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
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Daoud Wafa
Service De Dermatologie Hopital La Rabta De Tunis
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Kassar Selma
Hereditary Keratinization Disorders" Research Unit Hopital La Rabta De Tunis
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Cherif Faika
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (migod) Institut Pasteur De T
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases Institut Pasteur De Tunis
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Boubaker Samir
Pathology Department Institut Pasteur De Tunis
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Ouragini Houyem
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (migod) Institut Pasteur De T
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Pascucci Monica
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Castiglia Daniele
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Osman Amel
Service De Dermatologie Hopital La Rabta De Tunis
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Floriddia Giovanna
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
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Kassar Selma
Service D'anatomo-pathologie Institut Pasteur De Tunis
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Boubaker Samir
Service D'anatomo-pathologie Institut Pasteur De Tunis
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
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Ouragini Houyem
Molecular Investigation Of Genetic Orphan Diseases Research Unit Ur04/sp03 Pasteur Institute
関連論文
- Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
- Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
- Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
- Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients
- Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations
- A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
- Clinical and genetic investigation of a large Tunisian family with complete achromatopsia : identification of a new nonsense mutation in GNAT2 gene