A 2-bp deletion mutation in SMPD1gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree
| Autor: | Kang, Han, Zhou, Min, Xie, Chengxiu, Lu, Kangmo |
|---|---|
| Zdroj: | Journal of Pediatric Endocrinology & Metabolism; August 2022, Vol. 35 Issue: 8 p1113-1116, 4p |
| Databáze: | Supplemental Index |
| Externí odkaz: |
|