OMIM: 278000Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LIPA |
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| Dna Change: | c.894G>A |
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| Protein Change: | p.S275_Q298del |
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| Mutation Type: | Substitution |
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| Mutation Effect: | |
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| Location: | exon 8 |
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| Transcript: | NM_000235.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Croatia | NA | NA | NA | NA | Fasano T et al., 2012Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S, . Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.. Mol. Genet. Metab.. 2012; 105(3):450-6 |
| Greece | NA | NA | NA | NA | Fasano T et al., 2012Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S, . Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.. Mol. Genet. Metab.. 2012; 105(3):450-6 |
| Italy | NA | NA | NA | NA | Fasano T et al., 2012Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S, . Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.. Mol. Genet. Metab.. 2012; 105(3):450-6 |
References
Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S, Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.Mol. Genet. Metab.. 2012; 105(3):450-6