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PLEC wt Allele

Known as: PLEC1b, LGMD2Q, HD1 
Human PLEC wild-type allele is located in the vicinity of 8q24 and is approximately 62 kb in length. This allele, which encodes plectin protein, is… Expand
National Institutes of Health

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Highly Cited
2007
Highly Cited
2007
UDP-glucose:glycoprotein glucosyltransferase (UGGT) is a presumed folding sensor of protein quality control in the endoplasmic… Expand
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Highly Cited
2005
Highly Cited
2005
Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB… Expand
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Highly Cited
2002
Highly Cited
2002
Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS… Expand
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Highly Cited
2000
Highly Cited
2000
  • Duncan, Seltz, +5 authors Emslie
  • American journal of ophthalmology
  • 2000
  • Corpus ID: 15592426
electrophoresis (PAGE) that the mutant donor plasmids express wild-type levels of LtrA protein. 16. In 29 of 39 mobility products… Expand
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Highly Cited
2000
Highly Cited
2000
Universal positive correlations between different cognitive tests motivate the concept of "general intelligence" or Spearman's g… Expand
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Highly Cited
2000
Highly Cited
2000
ABSTRACT Est1 is a component of yeast telomerase, and est1mutants have senescence and telomere loss phenotypes. The exact… Expand
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Highly Cited
1997
Highly Cited
1997
The mobile group II introns aI1 and aI2 of yeast mtDNA encode endonuclease activities that cleave intronless DNA target sites to… Expand
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Highly Cited
1996
Highly Cited
1996
In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering is associated with late… Expand
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Highly Cited
1996
Highly Cited
1996
Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have… Expand
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Highly Cited
1992
Highly Cited
1992
The recent definition of a consensus DNA binding sequence for the Ets family of transcription factors has allowed the… Expand
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