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Human Genetics
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July 29, 2000
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
Y O Shevchenko, J G Compton, J R Toro, et al.
The Journal of Investigative Dermatology
|
December 1, 1996
Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases
S J Bale, L J Russell, M L Lee, et al.
Genomics
|
January 15, 1997
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)
G R Rogers, N G Markova, V De Laurenzi, et al.
The Journal of Biological Chemistry
|
September 10, 1984
Comparison of active mutants and wild-type aspartate transcarbamoylase of Escherichia coli
L P Vickers, J G Compton, K A Wall, et al.
Annals of the New York Academy of Sciences
|
December 26, 1991
Chromosomal localization of mouse hair keratin genes
J G Compton, D M Ferrara, D W Yu, et al.
The Journal of Investigative Dermatology
|
December 1, 1994
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma
V Kimonis, J J DiGiovanna, J M Yang, et al.
American Journal of Human Genetics
|
November 1, 1995
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins
G R Rogers, W B Rizzo, A Zlotogorski, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 16, 1998
A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases
E Candi, E Tarcsa, J J Digiovanna, et al.
American Journal of Human Genetics
|
February 1, 1994
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
C C Chipev, J M Yang, J J DiGiovanna, et al.
Cell
|
September 4, 1992
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
C C Chipev, B P Korge, N Markova, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 44) with videos related to
Sort By:
Page
of 5
Human Genetics
|
July 29, 2000
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
Y O Shevchenko, J G Compton, J R Toro, et al.
The Journal of Investigative Dermatology
|
December 1, 1996
Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases
S J Bale, L J Russell, M L Lee, et al.
Genomics
|
January 15, 1997
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)
G R Rogers, N G Markova, V De Laurenzi, et al.
The Journal of Biological Chemistry
|
September 10, 1984
Comparison of active mutants and wild-type aspartate transcarbamoylase of Escherichia coli
L P Vickers, J G Compton, K A Wall, et al.
Annals of the New York Academy of Sciences
|
December 26, 1991
Chromosomal localization of mouse hair keratin genes
J G Compton, D M Ferrara, D W Yu, et al.
The Journal of Investigative Dermatology
|
December 1, 1994
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma
V Kimonis, J J DiGiovanna, J M Yang, et al.
American Journal of Human Genetics
|
November 1, 1995
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins
G R Rogers, W B Rizzo, A Zlotogorski, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 16, 1998
A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases
E Candi, E Tarcsa, J J Digiovanna, et al.
American Journal of Human Genetics
|
February 1, 1994
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
C C Chipev, J M Yang, J J DiGiovanna, et al.
Cell
|
September 4, 1992
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
C C Chipev, B P Korge, N Markova, et al.
Page
of 5