Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene.

An, Hong

Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene. [electronic resource] - Chinese medical journal 10 2018 - 2368-2370 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

2542-5641

10.4103/0366-6999.241801 doi


Adolescent
Cystathionine beta-Synthase--genetics
Heterozygote
Humans
Hyperhomocysteinemia--genetics
Magnetic Resonance Imaging
Male
Methylenetetrahydrofolate Reductase (NADPH2)--genetics
Mutation--genetics