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Authors:
Maestrini, E
Korge, BP
Ocana-Sierra, J
Calzolari, E
Cambiaghi, S
Scudder, PM
Hovnanian, A
Monaco, AP
Munro, CS
Citation: E. Maestrini et al., A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families, HUM MOL GEN, 8(7), 1999, pp. 1237-1243
Authors:
Korge, BP
Hamm, H
Jury, CS
Traupe, H
Irvine, AD
Healy, E
Birch-Machin, M
Rees, JL
Messenger, AG
Holmes, SC
Parry, DAD
Munro, CS
Citation: Bp. Korge et al., Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype, J INVES DER, 113(4), 1999, pp. 607-612
Authors:
Muller, FB
Anton-Lamprecht, I
Kuster, W
Korge, BP
Citation: Fb. Muller et al., A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case, J INVES DER, 112(6), 1999, pp. 988-990