Words similar to cadasil

Example sentences for: cadasil

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These include urokinase-type plasminogen activator receptor (PLAUR; MIM 173391, see Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim/) [ 44 ] , apolipoproteins E (MIM 107741), CII (MIM 207750) and CI (MIM 107710), human brain-specific Na(+)-dependent inorganic phosphate cotransporter (hBNPI, 19q13) [ 45 ] , cardiac troponin I (TnIc, 19q; MIM 191044) [ 46 47 ] , cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, caused by mutations in the Notch3 gene, 19q12; MIM 602275) [ 48 ] , isolated cardiac conduction disease (19q13.
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
4) The patient is known to have any of the following single-gene or mitochondrial disorders recognized by a distinctive phenotype: CADASIL, Fabry disease, homocystinuria, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS), or sickle cell anemia.
Model-dependent linkage analysis has been used in large pedigrees with diseases such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [ 6 7 8 9 ] . However, traditional linkage analysis is unlikely to be the most expedient method of finding novel stroke-susceptibility genes when carrier status cannot be defined on the basis of distinctive clinical, radiographic, or laboratory features.