ERCC6 founder mutation identified in Finnish patients with COFS syndrome. [electronic resource]
Producer: 20110222Description: 541-7 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Base Sequence
- Cataract -- genetics
- Child, Preschool
- Cockayne Syndrome -- genetics
- Consanguinity
- DNA Helicases -- genetics
- DNA Mutational Analysis
- DNA Repair Enzymes -- genetics
- Finland
- Humans
- Male
- Microcephaly -- genetics
- Molecular Sequence Data
- Mutation
- Phenotype
- Poly-ADP-Ribose Binding Proteins
- Syndrome
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Publication Type: Journal Article
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