A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation

Autor:	L Mazzeo, David A. Gelber, Virginia Kimonis, Barbara E. Llewellyn, Simeon A. Boyadjiev, William E. Frank, Kathleen C. M. Campbell, J-P Lin, Margaret J. Kovach, Kristin Herman, Ethylin Wang Jabs
Rok vydání:	1999
Předmět:	Genetics stomatognathic diseases congenital hereditary and neonatal diseases and abnormalities stomatognathic system Point mutation Anticipation (genetics) otorhinolaryngologic diseases Biology Pmp22 gene Genetics (clinical) nervous system diseases
Zdroj:	Genetics in Medicine. 1:44
ISSN:	1098-3600
DOI:	10.1097/00125817-199901000-00018
Popis:	A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::54eff3b92d374c695cdef3710be6c35c https://doi.org/10.1097/00125817-199901000-00018 Zobrazit plný text záznamu