Gene Symbol: ACVRL1
OMIM: 601284Chromosome location: 12q13.13
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | Rhone-Alpes | 17/160 unrelated patients | NA | Lesca G et al., 2004Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, , . Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.. Hum. Mutat.. 2004; 23(4):289-99 |
| France | NA | NA | NA | 325 years ago (13 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 275 years ago (11 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 375 years ago (15 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 100 years ago (4 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
References
Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.Eur. J. Hum. Genet.. 2008; 16(6):742-9
Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, , Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.Hum. Mutat.. 2004; 23(4):289-99