Authors | Ayano Umekoji, Kazuyoshi Fukai, Takeshi Kasama, Toshiaki Yokoi, Mika Saito, Akitoshi Tsuruhara, Masamitsu Ishii |
Journal | Journal of dermatological science
(J Dermatol Sci)
Vol. 51
Issue 1
Pg. 62-5
(Jul 2008)
ISSN: 0923-1811 [Print] Netherlands |
PMID | 18387283
(Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Cholestadienols
- cholesta-5,8-dien-3 beta-ol
- Steroid Isomerases
- EBP protein, human
|
Topics |
- Amino Acid Substitution
- Cholestadienols
(blood, metabolism)
- Chondrodysplasia Punctata
(blood, genetics, metabolism)
- Female
- Humans
- Infant, Newborn
- Models, Molecular
- Mutation, Missense
- Steroid Isomerases
(chemistry, genetics)
|