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Results: 1-3 |
Results: 3
COMPOUND HETEROZYGOSITY FOR A RECESSIVE GLYCINE SUBSTITUTION AND A SPLICE-SITE MUTATION IN THE COL7A1 GENE CAUSES AN UNUSUALLY MILD FORM OFLOCALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: TERRACINA M POSTERARO P SCHUBERT M SONEGO G ATZORI F ZAMBRUNO G BRUCKNERTUDERMAN L CASTIGLIA D
Citation: M. Terracina et al., COMPOUND HETEROZYGOSITY FOR A RECESSIVE GLYCINE SUBSTITUTION AND A SPLICE-SITE MUTATION IN THE COL7A1 GENE CAUSES AN UNUSUALLY MILD FORM OFLOCALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 111(5), 1998, pp. 744-750
COMPOUND HETEROZYGOSITY FOR A GLYCINE SUBSTITUTION AND A SPLICE MUTATION IN COL7A1 GENE RESULTS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA LOCALISATA
Authors: TERRACINA M POSTERARO P SONEGO G ATZORI F ZAMBRUNO G CASTIGLIA D
Citation: M. Terracina et al., COMPOUND HETEROZYGOSITY FOR A GLYCINE SUBSTITUTION AND A SPLICE MUTATION IN COL7A1 GENE RESULTS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA LOCALISATA, Journal of investigative dermatology, 109(3), 1997, pp. 405-405
DETECTION OF THE MTDNA-14484 MUTATION ON AN AFRICAN-SPECIFIC HAPLOTYPE - IMPLICATIONS ABOUT ITS ROLE IN CAUSING LEBER HEREDITARY OPTIC NEUROPATHY
Authors: TORRONI A CARELLI V PEROZZI M TERRACINA M BARBONI P MALPASSI P WALLACE DC SCOZZARI R
Citation: A. Torroni et al., DETECTION OF THE MTDNA-14484 MUTATION ON AN AFRICAN-SPECIFIC HAPLOTYPE - IMPLICATIONS ABOUT ITS ROLE IN CAUSING LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 59(1), 1996, pp. 248-252
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