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

Fingerprint

frameshift mutation
Frameshift Mutation
in vitro studies
Nucleotides
nucleotides
mutation
Mutation
Genes
genes
In Vitro Techniques
Congenital central hypoventilation syndrome
polyalanine

ASJC Scopus subject areas

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

Cite this

Bachetti, T., & Ceccherini, I. (2008). In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome. In Genetic Basis for Respiratory Control Disorders (pp. 71-83). Springer US. https://doi.org/10.1007/978-0-387-70765-5_6

In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome. / Bachetti, Tiziana; Ceccherini, Isabella.

Genetic Basis for Respiratory Control Disorders. Springer US, 2008. p. 71-83.

Research output: Chapter in Book/Report/Conference proceedingChapter

Bachetti, Tiziana ; Ceccherini, Isabella. / In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome. Genetic Basis for Respiratory Control Disorders. Springer US, 2008. pp. 71-83
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