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Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the variant effects on LAL deficiency and to improve disease prevalence es...
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| Udgivet i: | Hum Mutat |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6852163/ https://ncbi.nlm.nih.gov/pubmed/31180157 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23837 |
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