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Results: 1-8 |
Results: 8
HOMOZYGOUS NONSENSE MUTATION IN HELIX-2 OF K14 CAUSES SEVERE RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: CORDEN LD MELLERIO JE GRATIAN MJ EADY RAJ HARPER JI LACOUR M MAGEE G LANE EB MCGRATH JA MCLEAN WHI
Citation: Ld. Corden et al., HOMOZYGOUS NONSENSE MUTATION IN HELIX-2 OF K14 CAUSES SEVERE RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX, Human mutation, 11(4), 1998, pp. 279-285
MUTATIONS IN CORNEA-SPECIFIC KERATIN K3 OR K12 GENES CAUSE MEESMANNS CORNEAL-DYSTROPHY
Authors: IRVINE AD CORDEN LD SWENSSON O SWENSSON B MOORE JE FRAZER DG SMITH FJD KNOWLTON RG CHRISTOPHERS E ROCHELS R UITTO J MCLEAN WHI
Citation: Ad. Irvine et al., MUTATIONS IN CORNEA-SPECIFIC KERATIN K3 OR K12 GENES CAUSE MEESMANNS CORNEAL-DYSTROPHY, Nature genetics, 16(2), 1997, pp. 184-187
HOMOZYGOUS NONSENSE MUTATION IN THE HELIX-2 DOMAIN OF K14 CAUSES RECESSIVE EBS
Authors: CORDEN LD MELLERIO JE GRATIAN MJ EADY RAJ HARPER JI LACOUR M MAGEE G LANE EB MCLEAN WHI MCGRATH JA
Citation: Ld. Corden et al., HOMOZYGOUS NONSENSE MUTATION IN THE HELIX-2 DOMAIN OF K14 CAUSES RECESSIVE EBS, Journal of investigative dermatology, 108(4), 1997, pp. 662-662
MISSENSE MUTATIONS IN KERATIN-17 CAUSE EITHER PACHYONYCHIA-CONGENITA TYPE-2 OR A PHENOTYPE RESEMBLING STEATOCYSTOMA MULTIPLEX
Authors: SMITH FJD CORDEN LD RUGG EL RATNAVEL R LEIGH IM MOSS C TIDMAN MJ HOHL D HUBER M KUNKELER L MUNRO CS LANE EB MCLEAN WHI
Citation: Fjd. Smith et al., MISSENSE MUTATIONS IN KERATIN-17 CAUSE EITHER PACHYONYCHIA-CONGENITA TYPE-2 OR A PHENOTYPE RESEMBLING STEATOCYSTOMA MULTIPLEX, Journal of investigative dermatology, 108(2), 1997, pp. 220-223
MEESMANNS-CORNEAL-DYSTROPHY IS CAUSED BY MUTATIONS IN CORNEA-SPECIFICKERATINS
Authors: MCLEAN WHI CORDEN LD IRVINE AD MOORE JE FRAZER DG SWENSSON O SWENSSON B SMITH FJD KNOWLTON RG CHRISTOPHERS E ROCHELS R UITTO J
Citation: Whi. Mclean et al., MEESMANNS-CORNEAL-DYSTROPHY IS CAUSED BY MUTATIONS IN CORNEA-SPECIFICKERATINS, American journal of human genetics, 61(4), 1997, pp. 99-99
EB SIMPLEX AND THE GROWING FAMILY OF KERATIN DISEASES
Authors: MCLEAN WHI RUGG EL SMITH FJD MORLEY SM SHEMANKO CC CORDEN LD MUNRO CS LEIGH IM EADY RAJ LANE EB
Citation: Whi. Mclean et al., EB SIMPLEX AND THE GROWING FAMILY OF KERATIN DISEASES, Journal of investigative dermatology, 107(5), 1996, pp. 8-8
EFFECTS OF KERATIN-14 ABLATION ON THE CLINICAL AND CELLULAR PHENOTYPEIN A KINDRED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: JONKMAN MF HEERES K PAS HH VANLUYN MJ ELEMA JD CORDEN LD SMITH FJD MCLEAN WHI RAMAEKERS FCS BURTON M SCHEFFER H
Citation: Mf. Jonkman et al., EFFECTS OF KERATIN-14 ABLATION ON THE CLINICAL AND CELLULAR PHENOTYPEIN A KINDRED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX, Journal of investigative dermatology, 107(5), 1996, pp. 764-769
MUTATIONS IN KERATIN-17 CAUSE STEATOCYSTOMA MULTIPLEX
Authors: SMITH FJD CORDEN LD RUGG EL MORLEY SM LANE EB HUBER M HOHL D MUNRO CS MCLEAN WHI
Citation: Fjd. Smith et al., MUTATIONS IN KERATIN-17 CAUSE STEATOCYSTOMA MULTIPLEX, Journal of investigative dermatology, 106(4), 1996, pp. 225-225
Risultati: 1-8 |