Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Hum Genet

Faculdade de Medicina, Universidade do Porto, Serviço de Genética Médica, and Serviço de Neurologia, Hospital São Bernardo, Setúbal, Portugal.

Published: June 2007

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cerebral autosomal

autosomal dominant

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