Gene Symbol: COL7A1
OMIM: 120120Chromosome location: 3p21.31
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Tunisia | NA | Southern | 62 % of mutated allele | NA | Ben Brick AS et al., 2013Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H, . Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.. Arch. Dermatol. Res.. 2013; 0(0): |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Spain | NA | NA | NA | 1131 years ago | Sanchez-Jimeno C et al., 2013Sanchez-Jimeno C, Cuadrado-Corrales N, Aller E, García M, Escámez MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M, . Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.. Br. J. Dermatol.. 2013; 168(1):226-9 |
| Spain | NA | NA | 27 patients/ 49 patients | NA | Cuadrado-Corrales N et al., 2010Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M, . A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.. BMC Med. Genet.. 2010; 11(0):139 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | NA | 15.3% of mutated alleles | NA | Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Sicily | 6.1% of mutated alleles | NA | Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Apulia | 5.1% of mutated alleles | NA | Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62 |
References
Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H, Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.Arch. Dermatol. Res.. 2013; 0(0):
Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M, A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.BMC Med. Genet.. 2010; 11(0):139
Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.J. Invest. Dermatol.. 2002; 119(6):1456-62
Sanchez-Jimeno C, Cuadrado-Corrales N, Aller E, García M, Escámez MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M, Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.Br. J. Dermatol.. 2013; 168(1):226-9