Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.

Sijbers, A M

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. [electronic resource] - The Journal of investigative dermatology May 1998 - 832-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0022-202X

10.1046/j.1523-1747.1998.00171.x doi


DNA Mutational Analysis
DNA Repair--genetics
Homozygote
Humans
Male
Middle Aged
Mutation--genetics
Nervous System Diseases--genetics
Point Mutation--genetics
Time Factors
Xeroderma Pigmentosum--genetics