OMIM: 601455Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | NDRG1 |
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| Dna Change: | c.442C>T |
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| Protein Change: | p.Arg148X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_001135242 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | NA | NA | Parman Y et al., 2004Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G, . Clinicopathological and genetic study of early-onset demyelinating neuropathy.. Brain. 2004; 127(0):2540-50 |
References
Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G, Clinicopathological and genetic study of early-onset demyelinating neuropathy.Brain. 2004; 127(0):2540-50