OMIM: 254800Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CSTB |
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| Dna Change: | c.-210CCCCGCCCCGCG(2_3) |
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| Protein Change: | |
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| Mutation Type: | Sequence repeat |
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| Mutation Effect: | |
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| Location: | UTR 5-prime |
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| Transcript: | NM_000100.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 43 families/47 North African families | NA | Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62 |
| Morocco | NA | NA | 43 families/47 North African families | NA | Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62 |
| Tunisia | NA | NA | 43 families/47 North African families | NA | Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62 |
References
Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.Hum. Genet.. 2002; 111(3):255-62