Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.|Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, 80045, U.S.A.
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Shah
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, 80045, U.S.A.|Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, U.S.A.
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Ferrara
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.|Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
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Jan
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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Umair
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Irfanullah
Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
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Khan
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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Ahmad
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, 80045, U.S.A.|Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, U.S.A.
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Spritz
D018387:Codon, Initiator / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics*; D027361:Organic Anion Transporters / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D014176:Protein Biosynthesis / Q000235:genetics
D018387:Codon, Initiator; D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human