Title : [The congenital central hypoventilation syndrome (CCHS): a late presentation].

Pub. Date : 2012 Mar

PMID : 22440308






1 Functional Relationships(s)
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1 Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. polyalanine paired like homeobox 2B Homo sapiens