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1 . Academic Journal
Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma
저자
by
Ishida-Yamamoto, Akemi
;
Nakamura, Satoshi
;
Kinouchi, Motoshi
;
Takahashi, Hidetoshi
;
Iizuka, Hajime
, et al.
소스
In
Journal of Investigative Dermatology
December 2000 115(6):1088-1094
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7 . Academic Journal
The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing
저자
by
van Steensel, Maurice
;
Smith, Frances J.D.
;
Steijlen, Peter M.
;
Kluijt, Irma
;
Stevens, Howard P.
, et al.
소스
In
The American Journal of Human Genetics
August 1999 65(2):413-419
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7 . Dissertation/ Thesis
Towards a comprehensive resource for elucidating the pathogenesis of inherited keratodermas
저자
by
Zamiri, Mozheh
;
Munro, Colin S.
;
Hodgins, Malcolm B.
;
Weller, R.
.
소스
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6 . Academic Journal
Two families with Greither's syndrome caused by a keratin 1 mutation
저자
by
Gach, Joanna E.
;
Munro, Colin S.
;
Lane, E. Birgitte
;
Wilson, Neil J.
;
Moss, Celia
.
소스
In
Journal of the American Academy of Dermatology
2005 53(5) Supplement:S225-S230
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7 . Academic Journal
Novel ATP2A2 mutations in a large sample of individuals with Darier disease
저자
by
Green, Elaine K.
;
Gordon-Smith, Katherine
;
Burge, Susan M.
;
Grozeva, Detelina
;
Munro, Colin S.
, et al.
소스
Journal of Dermatology
. Apr 01, 2013 40(4):259-266
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7 . Academic Journal
Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly.
저자
by
Sergeant, Ann
;
Campbell, Linda E.
;
Hull, Peter R.
;
Porter, Martin
;
Palmer, Colin N. A.
, et al.
소스
Journal of Investigative Dermatology
. Apr2009 Supplement 1, Vol. 129, p1042-1045. 4p. 1 Diagram, 1 Graph.
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7 . Academic Journal
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
저자
by
Sandilands, Aileen
;
Terron-Kwiatkowski, Ana
;
Hull, Peter R.
;
O'Regan, Gráinne M
;
Clayton, Timothy H.
, et al.
소스
Nature Genetics
. May2007, Vol. 39 Issue 5, p650-654. 5p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 3 Charts.
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7 . Academic Journal
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
저자
by
Smith, Frances J. D.
;
Irvine, Alan D.
;
Terron-Kwiatkowski, Ana
;
Sandilands, Aileen
;
Campbell, Linda E.
, et al.
소스
Nature Genetics
. Mar2006, Vol. 38 Issue 3, p337-342. 6p. 2 Color Photographs, 2 Diagrams, 1 Chart.
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7 . Academic Journal
Clinical and Pathological Features of Pachyonychia Congenita.
저자
by
Leachman, Sancy A.
;
Kaspar, Roger L.
;
Fleckman, Philip
;
Florell, Scott R.
;
Smith, Frances J. D.
, et al.
소스
Journal of Investigative Dermatology Symposium Proceedings
. Oct2005, Vol. 10 Issue 1, p3-17. 15p.
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7 . Academic Journal
The Genetic Basis of Pachyonychia Congenita.
저자
by
Smith, Frances J. D.
;
Haihui Liao
;
Cassidy, Andrew J.
;
Stewart, Arlene
;
Hamill, Kevin J.
, et al.
소스
Journal of Investigative Dermatology Symposium Proceedings
. Oct2005, Vol. 10 Issue 1, p21-30. 10p.
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