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...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wiley
2025-09-01
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| Rangatū: | Molecular Genetics & Genomic Medicine |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1002/mgg3.70132 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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