Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
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چکیده
منابع مشابه
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
Of the eight human genes implicated in xeroderma pigmentosum, defects in XPG produce some of the most clinically diverse symptoms. These range from mild freckling to severe skeletal and neurologic abnormalities characteristic of Cockayne syndrome. Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affe...
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CS: Cockayne syndrome ERCC5: Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene NER: Nucleotide excision repair UV: Ultraviolet WES: Whole exome sequencing XP: Xeroderma pigmentosum XP-G: Xeroderma pigmentosum complementation group G INTRODUCTION Xeroderma pigmentosum (XP) is an autosomal recessive genodermatosis caused by a germline loss of function in DN...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1994
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/3.6.963