Title : Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.

Pub. Date : 2012 Sep-Oct

PMID : 23427517






2 Functional Relationships(s)
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Protein Name
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1 PHOXB direct sequencing showed a heterozygous in-frame duplication of 21 bp leading to an expansion of +7 alanines within the 20 alanine stretch of the PHOX2B gene and confirmed our diagnosis. Alanine paired like homeobox 2B Homo sapiens
2 PHOXB direct sequencing showed a heterozygous in-frame duplication of 21 bp leading to an expansion of +7 alanines within the 20 alanine stretch of the PHOX2B gene and confirmed our diagnosis. Alanine paired like homeobox 2B Homo sapiens