Canine Junctional Epidermolysis Bullosa (JEB) is an inherited autosomal recessive disease which expression is characterized by skin blistering in different body regions. The disease is clinically characterized by a bullous and ulcerative dermatitis. The disease causes a general fragility of the skin leading to the formation of the spontaneous or traumatically induced blisters and ulcers on footpads, ear surface, tail tips and pressure points on the distal limbs. The German Shorthaired Pointer (Kurzhaar) is predisposed. The authors describe an allele-specific PCR (Polymerase Chain Reaction) for the molecular detection of the genetic mutation in the laminin 5 subunit gene (LAMA 3) which allows the identification of healthy carriers of JEB.
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Ctr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Rosas, Catarina S.
Ramos, Lina
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Ctr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Univ Beira Interior, Dept Hlth Sci, Covilha, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Ramos, Lina
Mota, Fabia
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Ctr Hosp Tondela Viseu, Paediat Unit, Viseu, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Mota, Fabia
Fonseca, Margarida
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Ctr Hosp & Univ Coimbra, Maternidade Bissaya Barreto, Neonatal Unit, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Fonseca, Margarida
Ramos, Leonor
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Ctr Hosp & Univ Coimbra, Dept Dermatol, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Ramos, Leonor
Dias, Marciana
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Ctr Hosp & Univ Coimbra, Maternidade Bissaya Barreto, Neonatal Unit, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Dias, Marciana
Saraiva, Jorge M.
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Ctr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Univ Coimbra, Fac Med, Univ Clin Paediat, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
Saraiva, Jorge M.
Mimoso, Gabriela
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Ctr Hosp & Univ Coimbra, Maternidade Bissaya Barreto, Neonatal Unit, Coimbra, PortugalCtr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal