Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
ABSTRACT Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to da...
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| Principais autores: | , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wiley
2025-01-01
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| Serija: | JIMD Reports |
| Teme: | |
| Online dostop: | https://doi.org/10.1002/jmd2.12470 |
| Oznake: |
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