| Phenotype: | Congenital disorder of glycosylation, type Ia |
|---|---|
| Dna Change: | c.415G>A |
| Protein Change: | p.Glu139Lys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 5 |
| Transcript: | NM_000303.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| France | NA | NA | 7 families/53 unrelated families | NA | Le Bizec C et al., 2005Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupré T, Durand G, Seta N, . A new insight into PMM2 mutations in the French population.. Hum. Mutat.. 2005; 25(5):504-5 |
| France | NA | NA | NA | NA | Vuillaumier-Barrot S et al., 2005Vuillaumier-Barrot S, . [Molecular diagnosis of congenital disorders of glycosylation].. Ann. Biol. Clin. (Paris). 2005; 63(2):135-43 |
Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupré T, Durand G, Seta N, A new insight into PMM2 mutations in the French population.Hum. Mutat.. 2005; 25(5):504-5
Vuillaumier-Barrot S, [Molecular diagnosis of congenital disorders of glycosylation].Ann. Biol. Clin. (Paris). 2005; 63(2):135-43