In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome

Tiziana Bachetti, Isabella Ceccherini

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Heterozygous frameshift mutations, polyalanine expansions and, at a lesser extent, missense and non sense nucleotide substitutions of the PHOX2B gene have been identified in the vast majority of CCHS individuals [4; 19; 23; 32] (Table 1).

Original languageEnglish
Title of host publicationGenetic Basis for Respiratory Control Disorders
PublisherSpringer US
Pages71-83
Number of pages13
ISBN (Print)9780387707655, 9780387707648
DOIs
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Medicine(all)
  • Neuroscience(all)

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