OMIM: 614692Inheritance: Autosomal recessive
Classification: Diseases of the genitourinary system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MME |
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| Dna Change: | c.466delC |
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| Protein Change: | p.Pro156Leufs*14 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 6 |
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| Transcript: | NM_000902.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 2 patients/1 family | NA | Vivarelli M et al., 2015Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, . Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.. Kidney Int.. 2015; 0(0): |
References
Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.Kidney Int.. 2015; 0(0):