Cassidy, A.J., van Steensel, M., Steijlen, P.M., van Geel, M., van der Velden, J., Morley, S.M., et al. (2005). A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 77(6), 909-917 [10.1086/497707].

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

Terrinoni, A;MELINO, GENNARO;CANDI, ELEONORA;
2005-12

Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/11
English
Con Impact Factor ISI
Catalytic Domain; Syndrome; Cross Reactions; Homozygote; Mutation, Missense; Transglutaminases; Epidermis; Microsatellite Repeats; Haplotypes; Molecular Sequence Data; DNA Mutational Analysis; Pedigree; Chromosome Mapping; Male; Protein Structure, Tertiary; Cell Line; Skin Diseases; Female; Consanguinity; Protein Structure, Secondary; Genes, Recessive; Binding Sites; Humans; Models, Molecular; Genetic Linkage; Sequence Analysis, DNA; Genetic Vectors; Genetic Markers
Cassidy, A.J., van Steensel, M., Steijlen, P.M., van Geel, M., van der Velden, J., Morley, S.M., et al. (2005). A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 77(6), 909-917 [10.1086/497707].
Cassidy, A; van Steensel, M; Steijlen, P; van Geel, M; van der Velden, J; Morley, S; Terrinoni, A; Melino, G; Candi, E; Mclean, W
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/16099
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