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

By Nakano Aoi   Chao Sheau-Chiou   Pulkkinen Leena   Murrell Dedee   Bruckner-Tuderman Leena   Pfendner Ellen   Uitto Jouni  

Human Genetics, Vol. 110, Iss. 1, 2002-01 ,pp. : 41-51

Springer Publishing Company

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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

Oxford University Press

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Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

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Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 669-674

Oxford University Press

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Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

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Human Molecular Genetics, Vol. 20, Iss. 9, 2011-05 ,pp. : 1811-1819

Oxford University Press

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Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene

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Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1125-1135

Oxford University Press

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