Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. [electronic resource]
Producer: 20000531Description: 1221-8 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- Child, Preschool
- DNA Helicases -- genetics
- DNA Repair Enzymes
- Diseases in Twins -- genetics
- Female
- Fibroblasts -- metabolism
- Genetic Complementation Test
- Humans
- Indians, North American -- genetics
- Male
- Manitoba
- Mutation -- genetics
- Phenotype
- Poly-ADP-Ribose Binding Proteins
- Proteins -- genetics
- Radiation Tolerance -- genetics
- Syndrome
- Transcription Factors
- Twins, Dizygotic -- genetics
- Ultraviolet Rays
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
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