Pascal and Francis Bibliographic Databases

Help

Export

Selection :

Permanent link
http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20751119

A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome

Author
OKAMOTO, Osamu1 ; ANDO, Tadasuke2 ; WATANABE, Atsushi3 ; SATO, Fuminori2 ; MIMATA, Hiromitsu2 ; SHIMADA, Takashi3 ; FUJIWARA, Sakuhei1
[1] Dermatology, Department of Anatomy, Biology and Medicine, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, Oita 879-5593, Japan
[2] Urology, Department of Tumor Control and Pathogenesis, Faculty of Medicine, Oita University, 1 -Idaigaoka, Hasama-machi, Yufu, Oita 879-5593, Japan
[3] Division of Clinical Genetics, Nippon Medical School Main Hospital, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
Source

Archives of dermatological research (Print). 2008, Vol 300, Num 9, pp 525-529, 5 p ; ref : 18 ref

CODEN
ADREDL
ISSN
0340-3696
Scientific domain
Dermatology
Publisher
Springer, Berlin
Publication country
Germany
Document type
Article
Language
English
Author keyword
Ehlers-Danlos syndrome Exon skipping Type III collagen
Keyword (fr)
Collagène Dermatologie Exon Gène Génétique Mutation ponctuelle Syndrome d'Ehlers-Danlos Vaisseau sanguin Maladie de système Maladie héréditaire Pathologie de la peau Pathologie du système ostéoarticulaire Pathologie du tissu élastique
Keyword (en)
Collagen Dermatology Exon Gene Genetics Point mutation Ehlers-Danlos syndrome Blood vessel Systemic disease Genetic disease Skin disease Diseases of the osteoarticular system Elastic tissue disease
Keyword (es)
Colágeno Dermatología Exón Gen Genética Mutación puntual Piel elástica Vaso sanguíneo Enfermedad sistémica Enfermedad hereditaria Piel patología Sistema osteoarticular patología Tejido elástico patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology

Discipline
Dermatology Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20751119

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

Access to the document

Searching the Web