Structural and functional differences inPHOX2Bframeshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome-Reference-Cited by-同舟云学术

Structural and functional differences inPHOX2Bframeshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Published:2017-11-21 Issue:2 Volume:39 Page:219-236
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Di Lascio Simona¹^ORCID,Benfante Roberta¹²^ORCID,Di Zanni Eleonora³,Cardani Silvia¹,Adamo Annalisa³,Fornasari Diego¹²^ORCID,Ceccherini Isabella³^ORCID,Bachetti Tiziana³^ORCID

Affiliation:

1. Department of Medical Biotechnology and Translational Medicine; Università degli Studi di Milano; Milan Italy

2. CNR- Neuroscience Institute; Milan Italy

3. UOC Genetica Medica; Istituto Giannina Gaslini; Genoa Italy

Funder

Fondazione Telethon

Associazione Italiana per la Ricerca sul Cancro

Associazione Italiana per la Sindrome da Ipoventilazione Centrale Congenita

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23365/fullpdf

Reference56 articles.

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3. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea;Amimoto;Journal of Clinical Sleep Medicine,2014

4. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene;Bachetti;Gene Expression,2005a

5. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome;Bachetti;Human Molecular Genetics,2005b

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