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Journal of Investigative Dermatology

Volumn 105, Issue 5, 1995, Pages 653-654

Lamellar ichthyosis is genetically heterogeneous - Cases with normal keratinocyte transglutaminase

(5) Huber, M a Rettler, I a Bernasconi, K a Wyss, M a Hohl, D a

a LAUSANNE UNIVERSITY HOSPITAL (Switzerland)

Author keywords

Cornified cell envelope; Ichthyosis congenita; Non bullous ichthyosiform erythroderma

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; CASE REPORT; FEMALE; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; LAMELLAR ICHTHYOSIS; MALE; MOLECULAR BIOLOGY; NEWBORN; PRIORITY JOURNAL;

EID: 0028810865 PISSN: 0022202X EISSN: None Source Type: Journal
DOI: 10.1111/1523-1747.ep12324122 Document Type: Article

Times cited : (76)

References (8)

1
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- Analysis of the cornified cell enevelope in lamellar ichthyossi
- Hohl D. Huber M. Frenk E. Analysis of the cornified cell enevelope in lamellar ichthyossi Arch Dermatol 129 1993 618 624
- (1993) Arch Dermatol , vol.129 , pp. 618-624
- Hohl, D.¹ Huber, M.² Frenk, E.³

2
- 85047690315
- Absent transglutaminase TGK expression in 2 out of 3 patients with lamellar ichthyosis
- Lavrijsen S. Maruyama T. Absent transglutaminase TGK expression in 2 out of 3 patients with lamellar ichthyosis Arch Dermatol 131 1995 363 364
- (1995) Arch Dermatol , vol.131 , pp. 363-364
- Lavrijsen, S.¹ Maruyama, T.²

3
- 0028947560
- Mutations of keratinocyte transglutaminase in lamellar ichthyosis
- Huber M. Rettler I. Bernasconi K. Frenk E. Lavirijsen S. Ponec M. Lautenschlager S. Schorderet D. Hohl D. Mutations of keratinocyte transglutaminase in lamellar ichthyosis Science 267 1995 525 528
- (1995) Science , vol.267 , pp. 525-528
- Huber, M.¹ Rettler, I.² Bernasconi, K.³ Frenk, E.⁴ Lavirijsen, S.⁵ Ponec, M.⁶ Lautenschlager, S.⁷ Schorderet, D.⁸ Hohl, D.⁹

4
- 0028028223
- Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
- Russel L.J. DiGiovanna J.J. Hashem N. Compton J.G. Bale S.J. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q Am J Hum Genet 55 1994 1146 1152
- (1994) Am J Hum Genet , vol.55 , pp. 1146-1152
- Russel, L.J.¹ DiGiovanna, J.J.² Hashem, N.³ Compton, J.G.⁴ Bale, S.J.⁵

5
- 0028817683
- Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
- Russell L.J. DiGiovanna J.J. Rogers G.R. Steinert P.M. Hashem N. Compton J.G. Bale S.K. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis Nat Genet 9 1995 279 283
- (1995) Nat Genet , vol.9 , pp. 279-283
- Russell, L.J.¹ DiGiovanna, J.J.² Rogers, G.R.³ Steinert, P.M.⁴ Hashem, N.⁵ Compton, J.G.⁶ Bale, S.K.⁷

6
- 0028564821
- Involucrin mRNA in the human hair follicles than in normal epidermis
- de Viragh P. Huber M. Hohl D. Involucrin mRNA in the human hair follicles than in normal epidermis J Invest Dermatol 103 1994 815 819
- (1994) J Invest Dermatol , vol.103 , pp. 815-819
- de Viragh, P.¹ Huber, M.² Hohl, D.³

7
- 0029020173
- Characterization of the SPRR proteins: a multigene family of cornified cell envelope precursor proteins
- Hohl D. de Viragh P. Amiguet-Barras F. Gibbs S. Gibbs S. Backendorf C. Huber M. Characterization of the SPRR proteins: a multigene family of cornified cell envelope precursor proteins J Invest Dermatol 104 1995 902 909
- (1995) J Invest Dermatol , vol.104 , pp. 902-909
- Hohl, D.¹ de Viragh, P.² Amiguet-Barras, F.³ Gibbs, S.⁴ Gibbs, S.⁵ Backendorf, C.⁶ Huber, M.⁷

8
- 0002810099
- The lamellar ichthyoses
- Traupe H. The lamellar ichthyoses The Ichthyoses 1989 Springer Berlin 111 134
- (1989) , pp. 111-134
- Traupe, H.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.