AN ORPHAN PHENOTYPE OF CARDIOGENITAL LAMINOPATHY — MALOUF SYNDROME
Recent decades significantly increased the spectrum of monogenic diseases associated with mutations in the gene of lamin A/C (LMNA), that codes the proteins group performing important functions in the nucleus. This pathology presents with diverse systemic tissue involvement. Mutations of the gene LM...
Main Authors: | , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
«FIRMA «SILICEA» LLC
2016-11-01
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Series: | Российский кардиологический журнал |
Subjects: | |
Online Access: | https://russjcardiol.elpub.ru/jour/article/view/817 |