Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
McGrath, JA, Gatalica, B, Li, K, Dunnill, MG, McMillan, JR, Christiano, AM, Eady, RA, Uitto, J
Published in The American journal of pathology (01.06.1996)
Get full text
Published in The American journal of pathology (01.06.1996)
Journal Article
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
McGrath, John A, Gatalica, Biljana, Christiano, Angela M, si, Kehua, Owaribe, Katsushi, McMillan, James R, Eady, Robin A.J, Uitto, Jouni
Published in Nature genetics (01.09.1995)
Published in Nature genetics (01.09.1995)
Get full text
Journal Article
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
GATALICA, B, PULKKINEN, L, LI, K, KUOKKANEN, K, RYYNÄNEN, M, MCGRATH, J. A, UITTO, J
Published in American journal of human genetics (01.02.1997)
Get full text
Published in American journal of human genetics (01.02.1997)
Journal Article
A Homozygous Deletion Mutation in the Gene Encoding the 180-kDa Bullous Pemphigoid Antigen (BPAG2) in a Family with Generalized Atrophic Benign Epidermolysis Bullosa
McGrath, John A., Darling, Thomas, Gatalica, Biljana, Pohla-Gubo, Gabrielle, Hintner, Helmut, Christiano, Angela M., Yancey, Kim, Uitto, Jouni
Published in Journal of investigative dermatology (01.04.1996)
Published in Journal of investigative dermatology (01.04.1996)
Get full text
Journal Article
Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa
Darling, Thomas N., McGrath, John A., Yee, Carole, Gatalica, Biljana, Hametner, Rudolf, Bauer, Johann W., Pohla-Gubo, Gabriele, Christiano, Angela M., Uitto, Jouni, Hintner, Helmut, Yancey, Kim B.
Published in Journal of investigative dermatology (01.04.1997)
Published in Journal of investigative dermatology (01.04.1997)
Get full text
Journal Article
Conference Proceeding
Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse
Bućan, M, Gatalica, B, Nolan, P, Chung, A, Leroux, A, Grossman, M H, Nadeau, J H, Emanuel, B S, Budarf, M
Published in Human molecular genetics (01.08.1993)
Published in Human molecular genetics (01.08.1993)
Get more information
Journal Article