Hervé, Dominique

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. [electronic resource] - American journal of human genetics Mar 2014 - 385-94 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2014.01.018 doi


Adolescent
Adult
Blood Platelets--metabolism
Child
Child, Preschool
Cyclic GMP--metabolism
Esophageal Achalasia--metabolism
Female
Genotype
Guanylate Cyclase--genetics
Homozygote
Humans
Male
Moyamoya Disease--metabolism
Muscle, Smooth, Vascular--metabolism
Mutation
Nitric Oxide--chemistry
Pedigree
Platelet Adhesiveness
Platelet Aggregation
Receptors, Cytoplasmic and Nuclear--genetics
Soluble Guanylyl Cyclase
Young Adult