Splicing modulation of integrin β 4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

By Chavanas S.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2097-2105

Oxford University Press

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Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging

By Bodemer C.   de Prost Y.   Gache Y.   Allegra M.   Pisani-Spadafora A.   Ortonne J.P.   Meneguzzi G.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2453-2461

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Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa

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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

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Springer Publishing Company

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Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

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Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1539-1546

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