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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.
- Source :
-
Journal of medical genetics [J Med Genet] 2004 May; Vol. 41 (5), pp. 373-80. - Publication Year :
- 2004
- Subjects :
- Alleles
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA Mutational Analysis
DNA Repeat Expansion
GC Rich Sequence
Heterozygote
Humans
Hypoventilation congenital
Hypoventilation diagnosis
Infant, Newborn
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Sleep Disorders, Intrinsic congenital
Sleep Disorders, Intrinsic diagnosis
Syndrome
Homeodomain Proteins genetics
Hypoventilation genetics
Mutation
Peptides genetics
Sleep Disorders, Intrinsic genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 41
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 15121777
- Full Text :
- https://doi.org/10.1136/jmg.2003.015412