OMIM: 278700Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | XPA |
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| Dna Change: | c.682C>T |
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| Protein Change: | p.Arg228X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 6 |
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| Transcript: | NM_000380.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 9 patients/ 6 unrelated families | NA | Messaoud O et al., 2010Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M, . Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.. Int. J. Dermatol.. 2010; 49(5):544-8 |
References
Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M, Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.Int. J. Dermatol.. 2010; 49(5):544-8