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Volumn 107, Issue 1, 1996, Pages 140-141

Genetic heterogeneity in lamellar ichthyosis [1]

Author keywords

[No Author keywords available]

Indexed keywords

DNA SEQUENCE; FAMILIAL DISEASE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; LAMELLAR ICHTHYOSIS; LETTER; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0030059450 PISSN: 0022202X EISSN: None Source Type: Journal
DOI: 10.1111/1523-1747.ep12298430 Document Type: Letter

Times cited : (7)

References (11)

1
- 0028810865
- Lamellar ichthyosis is genetically heterogeneous—cases with normal keratinocyte transglutaminase
- M. Huber I. Rettler K. Bernasconi M. Wyss D. Hohl Lamellar ichthyosis is genetically heterogeneous—cases with normal keratinocyte transglutaminase J Invest Dermatol 105 1995 653 654
- (1995) J Invest Dermatol , vol.105 , pp. 653-654
- Huber, M.¹ Rettler, I.² Bernasconi, K.³ Wyss, M.⁴ Hohl, D.⁵

2
- 0026794292
- Genomic structure of keratinocyte transglutaminase
- M.A. Phillips B.E. Stewart R.H. Rice Genomic structure of keratinocyte transglutaminase J Biol Chem 267 1992 2282 2286
- (1992) J Biol Chem , vol.267 , pp. 2282-2286
- Phillips, M.A.¹ Stewart, B.E.² Rice, R.H.³

3
- 0026794668
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
- M. Krawzak J. Reiss D. Cooper The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Hum Genet 90 1992 41 54
- (1992) Hum Genet , vol.90 , pp. 41-54
- Krawzak, M.¹ Reiss, J.² Cooper, D.³

4
- 0028126640
- The structure of the transglutaminase 1 enzyme—deletion cloning reveals domains that regulate its specific activity and substrate specificity
- S.Y. Kim I.G. Kim S.I. Chang P.M. Steinert The structure of the transglutaminase 1 enzyme—deletion cloning reveals domains that regulate its specific activity and substrate specificity J Biol Chem 269 1994 27979 27986
- (1994) J Biol Chem , vol.269 , pp. 27979-27986
- Kim, S.Y.¹ Kim, I.G.² Chang, S.I.³ Steinert, P.M.⁴

5
- 0026731235
- The two size alleles of human keratin-1 are due to a deletion in the glycine-rich carboxyl-terminal-V2 sub-domain
- B.P. Korge J.G. Compton P.M. Steinert D. Mischke The two size alleles of human keratin-1 are due to a deletion in the glycine-rich carboxyl-terminal-V2 sub-domain J Invest Dermatol 99 1992 697 702
- (1992) J Invest Dermatol , vol.99 , pp. 697-702
- Korge, B.P.¹ Compton, J.G.² Steinert, P.M.³ Mischke, D.⁴

6
- 0021928719
- Retinoic acid-induced transglutaminase in mouse epidennal cells is distinct from epidermal transglutaminase
- U. Lichti T. Ben S.H. Yuspa Retinoic acid-induced transglutaminase in mouse epidennal cells is distinct from epidermal transglutaminase J Biol Chem 260 1985 1422 1426
- (1985) J Biol Chem , vol.260 , pp. 1422-1426
- Lichti, U.¹ Ben, T.² Yuspa, S.H.³

7
- 0028947560
- Mutations of keratinocyte transglutaminase in lamellar ichthyosis
- M. Huber I. Rettler K. Bernasconi E. Frenk S. Lavrijsen M. Ponec A. Bon S. Lautenschlager D. Schorderet D. Hohl 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 Lavrijsen, S.⁵ Ponec, M.⁶ Bon, A.⁷ Lautenschlager, S.⁸ Schorderet, D.⁹ Hohl, D.¹⁰

8
- 0029089776
- Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
- L. Parmentier C. Blancher-Bardon S. Nguyen J.-F. Prud'homme L. Dubertret J. Weissenbach Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity Human Mol Gen 4 1995 1391 1395
- (1995) Human Mol Gen , vol.4 , pp. 1391-1395
- Parmentier, L.¹ Blancher-Bardon, C.² Nguyen, S.³ Prud'homme, J.-F.⁴ Dubertret, L.⁵ Weissenbach, J.⁶

9
- 85030286803
- Molecular heterogeneity and mutation detection in autosomal recessive lamellar ichthyosis
- A. Reis H. Hennies A. Mackova T. Ehrig W. Küster Molecular heterogeneity and mutation detection in autosomal recessive lamellar ichthyosis Am J Hum Genet 57 1995 A46
- (1995) Am J Hum Genet , vol.57 , pp. A46
- Reis, A.¹ Hennies, H.² Mackova, A.³ Ehrig, T.⁴ Küster, W.⁵

10
- 0022591181
- Report of a family with an unusual expression of recessive ichthyosis
- M. Bernhardt H. Baden Report of a family with an unusual expression of recessive ichthyosis Arch Dermatol 122 1986 428 433
- (1986) Arch Dermatol , vol.122 , pp. 428-433
- Bernhardt, M.¹ Baden, H.²

11
- 0028817683
- Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
- L.J. Russell J.J. DiGiovanna G.R. Rogers P.M. Steinert N. Hashem J.G. Compton S.K. Bale Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis Nature Genet 9 1995 279 283
- (1995) Nature 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

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.