Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosoma...
Сохранить в:
| Опубликовано в:: | Proc Natl Acad Sci U S A |
|---|---|
| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
National Academy of Sciences
1994
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC43441/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8146180/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.7.2718 |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
|