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Report of a recurre...
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
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Nawaz, Sadia (author)
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Tariq, Muhammad (author)
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Azhar, Aysha (author)
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Rasool, Mahmood (author)
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Bakhtiar, Syeda Marriam (author)
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Ahmad, Ilyas (author)
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Rehman, Shoaib Ur (author)
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Jameel, Muhammad (author)
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Khan, Tahir Naeem (author)
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Baig, Shehla Anjum (author)
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- Klar, Joakim (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl
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- Dahl, Niklas (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl
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Baig, Shahid Mahmood (author)
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(creator_code:org_t)
- 2011
- 2011
- English.
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In: Pakistan journal of medical sciences print. - 1682-024X .- 1681-715X. ; 27:3, s. 686-689
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http://pjms.com.pk/i...
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https://urn.kb.se/re...
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Abstract
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- Objective: To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mat de Meleda (MDM) or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Methodology: Single nucleotide polymorphism (SNPs) genotyping was performed using the Gene Chip Mapping 250K array (Affymetrix). Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel pOlymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fast link computer package. All three coding exons of ARS (component B) gene were amplified by PCR and sequenced. Conclusion: Sequencing of all the coding exons of ARS (component B) gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine (256G>A) and as a result the amino acid Glycine is replaced by Arginine at position 86 (G86R). This finding will facilitate control of affected MDM births in the Pakistani families.
Keyword
- Mal de Meleda (MDM)
- Palmoplantar keratoderma (PPK)
- ARS (component B) gene
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Nawaz, Sadia
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Tariq, Muhammad
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Azhar, Aysha
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Rasool, Mahmood
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Bakhtiar, Syeda ...
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Ahmad, Ilyas
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show more...
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Rehman, Shoaib U ...
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Jameel, Muhammad
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Khan, Tahir Naee ...
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Baig, Shehla Anj ...
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Klar, Joakim
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Dahl, Niklas
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Baig, Shahid Mah ...
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show less...
- Articles in the publication
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Pakistan journal ...
- By the university
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Uppsala University