Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients,Nucleosides, Nucleotides & Nucleic Acids

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Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients
Nucleosides, Nucleotides & Nucleic Acids ( IF 1.3 ) Pub Date : 2023-11-16 , DOI: 10.1080/15257770.2023.2280013
Adila Khalil _{1,

2} , Haq Nawaz Khan _{1,

2,

3} , Muhammad Wasim _{1,

2,

3} , Hina Ayesha ₄ , Fazli Rabbi Awan _{1,

2}

Affiliation

Classical homocystinuria is an inborn amino acid metabolism disorder resulting from mutations in the Cystathionine-β-Synthase (CBS) gene. These mutations lead to elevated homocysteine and methionin...

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