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Loss of soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

(Submitter supplied) Background: Moyamoya is a cerebrovascular condition of unknown mechanism characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICA) and the compensatory development of abnormal “moyamoya” vessels. It leads to ischemic and hemorrhagic stroke. We describe a novel autosomal recessive disease leading to severe moyamoya and early onset achalasia and report its cause in 3 unrelated families. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL3718
9 Samples
Download data: CEL, CHP
Series
Accession:
GSE48099
ID:
200048099

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