Genomic coordinate (9:97,654,398 human XPA) & (4:46,175,222 mouse Xpa).
Cytoband (9q22.33 human XPA) & (4qC2 mouse Xpa).
Here I present: “Xeroderma Pigmentosum Group-A“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (XPA) icd=Q82.1
INTRODUCTION.
Xeroderma pigmentosum (XP) is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome.
There is evidence that xeroderma pigmentosum group-A is caused in humans by mutation in the XPA gene ecoded on genomic coordinate 9:97,654,398 and cytoband 9q22.33.
