id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_uvw7kjvenvgepdjf25imorgj7e	Casey L. Moulson	Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy	2005	7	.pdf	application/pdf	6047	424	57	Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy heterozygous mutation in ZMPSTE24 and hypothesized to be a digenic disorder (Navarro et al, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal activity, prelamin A, the unprocessed toxic form of lamin A, was detected in the nuclei of both cultured cells and results indicate that RD is an autosomal recessive laminopathy caused by inactivating ZMPSTE24 mutations that different homozygous mutations and one patient with compound heterozygous mutations in ZMPSTE24 that are associated with RD, providing strong support for a simple mutation was homozygous in one affected child and heterozygous in both parents (Fig 1D and E). Lamin A/C distribution is abnormal in RD patients reported to have a heterozygous c.1085dupT mutation in there being a digenic mode of inheritance, we favor the possibility that there exist ZMPSTE24 mutations that are difficult to detect by conventional PCR-based methods.	./cache/work_uvw7kjvenvgepdjf25imorgj7e.pdf	./txt/work_uvw7kjvenvgepdjf25imorgj7e.txt