Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria
ABSTRACT Background Classical homocystinuria (HCU), caused by cystathionine beta‐synthase (CBS) deficiency, exhibits significant geographic variability in its mutational spectrum. Although over 191 CBS mutations have been reported worldwide, Chinese cases remain rare and lack common hotspot mutation...
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| Huvudupphov: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Wiley
2025-09-01
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| Serie: | Molecular Genetics & Genomic Medicine |
| Ämnen: | |
| Länkar: | https://doi.org/10.1002/mgg3.70132 |
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