Title : [Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].

Pub. Date : 2015 Oct

PMID : 26418987






1 Functional Relationships(s)
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1 DNA sequencing and amp-FLP of the PHOX2B gene showed that the patient has carried a polyalanine expansion repeat mutation (PARM) in exon 3. polyalanine paired like homeobox 2B Homo sapiens