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Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome

โœ Scribed by Christina M Spengler; David Gozal; Steven A Shea


Book ID
114081852
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
164 KB
Volume
129
Category
Article
ISSN
0034-5687

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In Vitro studies of non poly alanine PHO
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A wide range of autonomic dysfunctions, i.e. Central Hypoventilation Syndromes, Hirschsprung disease and Tumours of the Sympathetic Nervous System have been ascribed to heterozygous PHOX2B mutations in man. The PHOX2B mutations reported include polyalanine expansions in a 20 alanines tract, missense