Authors | Dedee F Murrell, Anna M G Pasmooij, Hendri H Pas, Penelope Marr, Sandra Klingberg, Ellen Pfendner, Jouni Uitto, Sara Sadowski, Felicity Collins, Richard Widmer, Marcel F Jonkman |
Journal | The Journal of investigative dermatology
(J Invest Dermatol)
Vol. 127
Issue 7
Pg. 1772-5
(Jul 2007)
ISSN: 1523-1747 [Electronic] United States |
PMID | 17344927
(Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Autoantigens
- Non-Fibrillar Collagens
- collagen type XVII
|
Topics |
- Autoantigens
(genetics)
- Chromosome Mapping
- Dental Enamel Hypoplasia
(genetics)
- Epidermolysis Bullosa, Junctional
(diagnosis, genetics, immunology)
- Female
- Fluorescent Antibody Technique
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
(genetics)
- Non-Fibrillar Collagens
(genetics)
- Pedigree
- Retrospective Studies
|