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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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Jingfei Zhang, Xinyu Lin, Xinmei Liu, Yilu Lu, Dachang Tao, Dan Yu, Yongxin Ma
Format:	Article
Language:	English
Published:	Wiley 2025-09-01
Subjects:	classical homocystinuria cystathionine beta‐synthase (CBS) functional analysis mutation
Online Access:	https://doi.org/10.1002/mgg3.70132