NIPAL4 Mutation c.527C>A Identified in Romanian Patients With Autosomal Recessive Congenital Ichthyosis
December 2016
in “
Revista română de medicină de laborator
”
Studysummary This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
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