Browsing Centre for Clinical Pharmacology by Author "Lachlan, K"
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Parry, DA; Martin, C-A; Greene, P; Marsh, JA; Genomics England Research Consortium; Blyth, M; Cox, H; Donnelly, D; Greenhalgh, L; Greville-Heygate, S (2020-10-09)PURPOSE: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, ...