Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
スポンサーリンク
概要
- 論文の詳細を見る
- 2010-02-01
著者
-
OURAGINI Houyem
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
-
CHERIF Faika
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
-
KASSAR Selma
Service d'Anatomo-Pathologie, Institut Pasteur de Tunis
-
FLORIDDIA Giovanna
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
-
PASCUCCI Monica
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
-
DAOUD Wafa
Service de Dermatologie, Hopital La Rabta de Tunis
-
OSMAN-DHAHRI Amel
Service de Dermatologie, Hopital La Rabta de Tunis
-
BOUBAKER Samir
Service d'Anatomo-Pathologie, Institut Pasteur de Tunis
-
CASTIGLIA Daniele
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
-
ABDELHAK Sonia
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
-
Daoud Wafa
Service De Dermatologie Hopital La Rabta De Tunis
-
Kassar Selma
Hereditary Keratinization Disorders" Research Unit Hopital La Rabta De Tunis
-
Cherif Faika
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (migod) Institut Pasteur De T
-
Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases Institut Pasteur De Tunis
-
Boubaker Samir
Pathology Department Institut Pasteur De Tunis
-
Ouragini Houyem
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (migod) Institut Pasteur De T
-
Pascucci Monica
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
-
Castiglia Daniele
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
-
Osman Amel
Service De Dermatologie Hopital La Rabta De Tunis
-
Floriddia Giovanna
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
-
BRICK Sabrine
"Molecular Investigation of Genetic Orphan Diseases" Research Unit, Institut Pasteur de Tunis
-
NOUIRA Sonia
"Molecular Investigation of Genetic Orphan Diseases" Research Unit, Institut Pasteur de Tunis
-
KEFI Rym
"Molecular Investigation of Genetic Orphan Diseases" Research Unit, Institut Pasteur de Tunis
-
MAHDHAOUI Nabiha
Service de Neonatologie, Hopital Farhat Hached
-
MRAD Ridha
Service des maladies congenitales et hereditaires, Hopital Charles Nicolles
-
RIDHA KAMOUN
Service de Dermatologie, Hopital Charles Nicolles
-
DENGUEZLI Mohamed
Service de Dermatologie, Hopital Farhat Hached
-
MONASTIRI Kamel
"Epidemiologie, Ethiopathogenie et Therapeutique des Malformations Congenitales en Tunisie" Research
-
SEBOUI Hassen
Service de Neonatologie, Hopital Farhat Hached
-
MOKNI Mourad
Service de Dermatologie, Hopital La Rabta de Tunis
-
Brick Sabrine
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
-
Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
-
Ridha Kamoun
Service De Dermatologie Hopital Charles Nicolles
-
Mrad Ridha
Service Des Maladies Congenitales Et Hereditaires Hopital Charles Nicolles
-
Kassar Selma
Service D'anatomo-pathologie Institut Pasteur De Tunis
-
Boubaker Samir
Service D'anatomo-pathologie Institut Pasteur De Tunis
-
Kefi Rym
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
-
Nouira Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
-
Mokni Mourad
Service De Dermatologie Hopital La Rabta De Tunis
-
Seboui Hassen
Service De Neonatologie Hopital Farhat Hached
-
Monastiri Kamel
Epidemiologie Ethiopathogenie Et Therapeutique Des Malformations Congenitales En Tunisie" Resea
-
Mahdhaoui Nabiha
Service De Neonatologie Hopital Farhat Hached
-
Denguezli Mohamed
Service De Dermatologie Hopital Farhat Hached
-
Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
-
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
- Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family