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JEB-I

National Institutes of Health

Papers overview

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Highly Cited
2018
Highly Cited
2018
Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
Significance Premature termination codons (PTCs) generated by nonsense mutations produce abnormal, short, or diminished proteins… 
2013
2013
Chairman Hensarling Opposes Obama Administration Decision to Extend Failed HAMP WASHINGTON -- Financial Services Committee Chairman Jeb Hensarling (R-TX) expressed his strong opposition to President…
2005
2005
Nephrotic Syndrome and Aberrant Expression of Laminin Isoforms in Glomerular Basement Membranes for an Infant With Herlitz Junctional Epidermolysis Bullosa
Herlitz junctional epidermolysis bullosa (H-JEB) is a hereditary bullous disease caused by absent expression of laminin-5, a… 
2002
2002
The Making of Local Agenda 21: An interview with Jeb Brugmann
  • L. Hom
  • 2002
  • Corpus ID: 154982169
Before 1992, local authorities had little input into the internationa l environmental policy process. As a matter of course… 
2002
2002
Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa
Abstract: We studied a single patient with the lethal (Herlitz) type of junctional epidermolysis bullosa (H‐JEB). Screening for… 
2000
2000
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
Abstract: The Herlitz type of junctional epidermolysis bullosa (H‐JEB) is a severe inherited bullous disease which leads to the… 
1999
1999
Tax rate changes and the long-run equilibrium relationship between taxable and tax-exempt interest rates
1998
1998
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online.
Herlitz junctional epidermolysis bullosa (H-JEB; OMIM #226700) is a lethal, autosomal recessive blistering disorder characterized… 
1997
1997
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
Junctional forms of epidermolysis bullosa (JEB) are characterized by tissue separation at the level of the lamina lucida. We have… 
1994
1994
Keratinocytes from junctional epidermolysis bullosa do adhere and migrate on the basement membrane protein nicein through alpha 3 beta 1 integrin.
BACKGROUND Junctional epidermolysis bullosa (JEB) encompasses several genodermatoses characterized by skin blistering, and… 
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