par Symoens, Sofie;Malfait, Fransiska;Renard, Marjolijn;André, Josette 
;Hausser, Ingrid;Loeys, Bart;Coucke, Paul;De Paepe, Anne
Référence Human mutation, 30, 2, page (E395-E403)
Publication Publié, 2009-02
;Hausser, Ingrid;Loeys, Bart;Coucke, Paul;De Paepe, AnneRéférence Human mutation, 30, 2, page (E395-E403)
Publication Publié, 2009-02
Article révisé par les pairs
| Titre: |
|
| Auteur: | Symoens, Sofie; Malfait, Fransiska; Renard, Marjolijn; André, Josette; Hausser, Ingrid; Loeys, Bart; Coucke, Paul; De Paepe, Anne |
| Informations sur la publication: | Human mutation, 30, 2, page (E395-E403) |
| Statut de publication: | Publié, 2009-02 |
| Sujet CREF: | Dermatologie |
| MeSH keywords: | Adult |
| Amino Acid Sequence | |
| Base Sequence | |
| Cell Line | |
| Child | |
| Child, Preschool | |
| Collagen Type V -- chemistry -- genetics -- secretion | |
| DNA Mutational Analysis | |
| Ehlers-Danlos Syndrome -- genetics | |
| Female | |
| Fibrillar Collagens -- ultrastructure | |
| Heterozygote | |
| Humans | |
| Immunoblotting | |
| Infant | |
| Infant, Newborn | |
| Male | |
| Molecular Sequence Data | |
| Mutant Proteins -- secretion | |
| Mutation -- genetics | |
| Plasmids -- genetics | |
| Protein Sorting Signals -- genetics | |
| Note générale: | Case Reports |
| Journal Article | |
| Research Support, Non-U.S. Gov't | |
| FLWIN | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1059-7794 |
| info:doi/10.1002/humu.20887 | |
| info:pmid/18972565 |
