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pro vyhledávání: '"María Carmen Barboza‐Cerda"'
Autor:
María Carmen Barboza‐Cerda, Oralia Barboza‐Quintana, Gerardo Martínez‐Aldape, Raquel Garza‐Guajardo, Miguel Angel Déctor
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Male EBP disorder with neurologic defects (MEND) syndrome is an X‐linked disease caused by hypomorphic mutations in the EBP (emopamil‐binding protein) gene. Modifier genes may explain the clinical variability among individuals
Externí odkaz:
https://doaj.org/article/3e1ea5a888ae47b0a5ef63691221f9f5