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A novel mutation and novel features in Nijmegen breakage syndrome.
- Source :
-
Journal of medical genetics [J Med Genet] 2001 Feb; Vol. 38 (2), pp. 113-7. - Publication Year :
- 2001
- Subjects :
- Abnormalities, Multiple pathology
Ataxia Telangiectasia genetics
Ataxia Telangiectasia pathology
Base Sequence
Child, Preschool
Chromosome Aberrations
Chromosome Breakage
DNA chemistry
DNA genetics
DNA Mutational Analysis
Female
Growth Disorders pathology
Humans
Microcephaly pathology
Polydactyly pathology
Sequence Deletion
Syndrome
Translocation, Genetic
Abnormalities, Multiple genetics
Mutation
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 38
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 11288710
- Full Text :
- https://doi.org/10.1136/jmg.38.2.113