TY  - GEN
AU  - Meira,L B
AU  - Graham,J M
AU  - Greenberg,C R
AU  - Busch,D B
AU  - Doughty,A T
AU  - Ziffer,D W
AU  - Coleman,D M
AU  - Savre-Train,I
AU  - Friedberg,E C
TI  - Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
SN  - 0002-9297
PY  - 2000///0531
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cells, Cultured
KW  - Child
KW  - Child, Preschool
KW  - DNA Helicases
KW  - DNA Repair Enzymes
KW  - Diseases in Twins
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Genetic Complementation Test
KW  - Humans
KW  - Indians, North American
KW  - Male
KW  - Manitoba
KW  - Mutation
KW  - Phenotype
KW  - Poly-ADP-Ribose Binding Proteins
KW  - Proteins
KW  - Radiation Tolerance
KW  - Syndrome
KW  - Transcription Factors
KW  - Twins, Dizygotic
KW  - Ultraviolet Rays
N1  - 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
UR  - https://doi.org/10.1086/302867
ER  -