Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.

Yu-jin Qu, Fang Song, Yanling Yang, Yu-wei Jin, Jinli Bai

PubMed · 2011 · 17 citations · 8 references

Abstract

p.Arg288Met is more a disease-causing mutation than a polymorphism variation, and children with this mutation may have more severe phenotypes.

References

8