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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Fältnamn	Indikatorer	Metadata
000		02927naa a2200445 4500
001		oai:DiVA.org:uu-158423
003		SwePub
008		110907s2011 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1584232 URI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Nawaz, Sadia4 aut
245	1 0	a Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
264	1	c 2011
338		a print2 rdacarrier
520		a 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.
653		a Mal de Meleda (MDM)
653		a Palmoplantar keratoderma (PPK)
653		a ARS (component B) gene
653		a MEDICINE
653		a MEDICIN
700	1	a Tariq, Muhammad4 aut
700	1	a Azhar, Aysha4 aut
700	1	a Rasool, Mahmood4 aut
700	1	a Bakhtiar, Syeda Marriam4 aut
700	1	a Ahmad, Ilyas4 aut
700	1	a Rehman, Shoaib Ur4 aut
700	1	a Jameel, Muhammad4 aut
700	1	a Khan, Tahir Naeem4 aut
700	1	a Baig, Shehla Anjum4 aut
700	1	a Klar, Joakimu Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl4 aut0 (Swepub:uu)jkl27173
700	1	a Dahl, Niklasu Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl4 aut0 (Swepub:uu)nikldahl
700	1	a Baig, Shahid Mahmood4 aut
710	2	a Uppsala universitetb Institutionen för immunologi, genetik och patologi4 org
773	0	t Pakistan journal of medical sciences printg 27:3, s. 686-689q 27:3<686-689x 1682-024Xx 1681-715X
856	4	u http://pjms.com.pk/index.php/pjms/article/view/798
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-158423

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Av författaren/redakt...: Nawaz, Sadia; Tariq, Muhammad; Azhar, Aysha; Rasool, Mahmood; Bakhtiar, Syeda ...; Ahmad, Ilyas; visa fler...; Rehman, Shoaib U ...; Jameel, Muhammad; Khan, Tahir Naee ...; Baig, Shehla Anj ...; Klar, Joakim; Dahl, Niklas; Baig, Shahid Mah ...; visa färre...

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