High 8-dehydrocholesterol level in a typical case of Conradi–Hunermann–Happle syndrome with a novel H76Y missense mutation

Autor:	Takeshi Kasama, Ayano Umekoji, Akitoshi Tsuruhara, Masamitsu Ishii, Mika Saito, Kazuyoshi Fukai, Toshiaki Yokoi
Rok vydání:	2008
Předmět:	medicine.medical_specialty Ichthyosis Steroid Isomerases Amino acid substitution Dermatology Biology medicine.disease Biochemistry Infant newborn Happle Syndrome Endocrinology Internal medicine medicine Missense mutation Chondrodysplasia punctata Molecular Biology
Zdroj:	Journal of Dermatological Science. 51:62-65
ISSN:	0923-1811
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::d4cf2e66acf1f9ac89b440f2b1c7bd91 https://doi.org/10.1016/j.jdermsci.2008.02.005 Zobrazit plný text záznamu Full Text from ScienceDirect