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Results: 1-7 |
Results: 7
Novel keratin 17 mutations in pachyonychia congenita type 2
Authors: Smith, FJD Coleman, CM Bayoumy, NM Tenconi, R Nelson, J David, A McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 17 mutations in pachyonychia congenita type 2, J INVES DER, 116(5), 2001, pp. 806-808
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21
Authors: Whittock, NV Coleman, CM McLean, WH Ashton, GHS Acland, KM Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21, J INVES DER, 115(4), 2000, pp. 694-698
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1
Authors: Smith, FJD McKenna, KE Irvine, AD Bingham, EA Coleman, CM Uitto, J McLean, WHI
Citation: Fjd. Smith et al., A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1, EXP DERMATO, 8(2), 1999, pp. 109-114
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1
Authors: Smith, FJD Del Monaco, M Steijlen, PM Munro, CS Morvay, M Coleman, CM Rietveld, FJR Uitto, J McLean, WH
Citation: Fjd. Smith et al., Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1, BR J DERM, 141(6), 1999, pp. 1010-1016
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
Authors: Coleman, CM Munro, CS Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif, BR J DERM, 140(3), 1999, pp. 486-490
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
Authors: Coleman, CM Hannush, S Covello, SP Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy, AM J OPHTH, 128(6), 1999, pp. 687-691
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing
Authors: van Steensel, M Smith, FJD Steijlen, PM Kluijt, I Stevens, HP Messenger, A Kremer, H Dunnill, MGS Kennedy, C Munro, CS Doherty, VR McGrath, JA Covello, SP Coleman, CM Uitto, J McLean, WHI
Citation: M. Van Steensel et al., The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing, AM J HU GEN, 65(2), 1999, pp. 413-419
Risultati: 1-7 |