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Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
- Source :
-
Journal of medical genetics [J Med Genet] 2001 Sep; Vol. 38 (9), pp. 643-6. - Publication Year :
- 2001
- Subjects :
- Child
Child, Preschool
Codon, Nonsense genetics
Codon, Terminator genetics
Consanguinity
DNA Mutational Analysis
Exons genetics
Female
Ghana
Histiocytosis, Non-Langerhans-Cell pathology
Humans
Infant
Italy
Male
Membrane Glycoproteins chemistry
Mutation, Missense genetics
Perforin
Pore Forming Cytotoxic Proteins
Protein Structure, Tertiary
Treatment Outcome
Turkey
Histiocytosis, Non-Langerhans-Cell genetics
Membrane Glycoproteins genetics
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 38
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 11565555
- Full Text :
- https://doi.org/10.1136/jmg.38.9.643