Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
作者信息
Ferreira Susana, Costa Cristina, Oliveira João Paulo
机构信息
Faculdade de Medicina, Universidade do Porto, Serviço de Genética Médica, Portugal.
出版信息
Hum Genet. 2007 Jun;121(5):649.
PMID:17879445
Abstract
摘要
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