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A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
Rehman, Atta Ur; Rashid, Abdur; Hussain, Zubair; Shah, Khadim.
Affiliation
  • Rehman AU; Department of Biomedical Sciences, Pak-Austria Fachhochschule: Institute of Applied Sciences and Technology, Khanpur Road, Mang, Haripur, Pakistan. atta.rehman@hu.edu.pk.
  • Rashid A; Department of Higher Education Archives and Libraries Peshawar, Government of Khyber Pakhtunkhwa, Peshawar, Pakistan.
  • Hussain Z; Department of Biotechnology, COMSATS University Islamabad, Abbottabad Campus, Abbottabad, Pakistan.
  • Shah K; Department of Biotechnology, COMSATS University Islamabad, Abbottabad Campus, Abbottabad, Pakistan.
J Med Case Rep ; 16(1): 66, 2022 Feb 16.
Article in En | MEDLINE | ID: mdl-35168679
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Metabolism, Inborn Errors / Anemia, Hemolytic, Congenital Nonspherocytic Limits: Adolescent / Female / Humans Country/Region as subject: Asia Language: En Journal: J Med Case Rep Year: 2022 Document type: Article Affiliation country: Pakistan Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Metabolism, Inborn Errors / Anemia, Hemolytic, Congenital Nonspherocytic Limits: Adolescent / Female / Humans Country/Region as subject: Asia Language: En Journal: J Med Case Rep Year: 2022 Document type: Article Affiliation country: Pakistan Country of publication: United kingdom