PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. Issue 5 (30th April 2004)

Record Type:: Journal Article
Title:: PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. Issue 5 (30th April 2004)
Main Title:: PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
Authors:: Matera, I
Bachetti, T
Puppo, F
Di Duca, M
Morandi, F
Casiraghi, G M
Cilio, M R
Hennekam, R
Hofstra, R
Schöber, J G
Ravazzolo, R
Ottonello, G
Ceccherini, I
Abstract:
Is Part Of:: Journal of medical genetics. Volume 41:Issue 5(2004)
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 5(2004)
Issue Display:: Volume 41, Issue 5 (2004)
Year:: 2004
Volume:: 41
Issue:: 5
Issue Sort Value:: 2004-0041-0005-0000
Page Start:: 373
Page End:: 380
Publication Date:: 2004-04-30
Subjects:: congenital Central Hypoventilation syndrome (CCHS) -- genotype-phenotype correlation -- PHOX2B gene -- polyalanine expansion
ANS, autonomic nervous system -- ANSD, ANS dysfunctions -- CCHS, congenital Central Hypoventilation syndrome -- HSCR, Hirschsprung's disease -- LOCHS, late onset Central Hypoventilation syndrome -- SNP, single nucleotide polymorphism
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.2003.015412 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 18147.xml