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Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish Patients
Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms. We present a molecular a...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2760245/ https://ncbi.nlm.nih.gov/pubmed/19405096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21018 |
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