TY  - GEN
AU  - Sijbers,A M
AU  - van Voorst Vader,P C
AU  - Snoek,J W
AU  - Raams,A
AU  - Jaspers,N G
AU  - Kleijer,W J
TI  - Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease
SN  - 0022-202X
PY  - 1998///0601
KW  - DNA Mutational Analysis
KW  - DNA Repair
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Nervous System Diseases
KW  - Point Mutation
KW  - Time Factors
KW  - Xeroderma Pigmentosum
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1046/j.1523-1747.1998.00171.x
ER  -