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
Référence Human mutation, 30, 2, page (E395-E403)
Publication Publié, 2009-02
Article révisé par les pairs
Titre: |
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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 |