Found: 15
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Characterization of Large Deletions in the Pro-α1(III) mRNA from Two Ehlers-Danlos Type IV Patients<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 552, doi. 10.1111/j.1749-6632.1990.tb17988.x
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- Article
Fibrillar Collagen Genes.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 74, doi. 10.1111/j.1749-6632.1990.tb17919.x
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- Article
Structure and Expression of Echinoid Fibrillar Collagens<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 496, doi. 10.1111/j.1749-6632.1990.tb17970.x
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- Article
A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome.
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- Acta Dermato-Venereologica, 2010, v. 90, n. 1, p. 95, doi. 10.2340/00015555-0769
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- Article
β-GLUCURONIDASE MUTANTS OF THE NEMATODE CAENORHABDITIS ELEGANS.
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- Genetics, 1986, v. 112, n. 3, p. 459
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- Article
Proteolytic Activation Cascade of the Netherton Syndrome-Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis.
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- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2223, doi. 10.1038/jid.2011.174
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- Article
Immunofluorescence Analysis of Villous Trophoblasts: A Tool for Prenatal Diagnosis of Inherited Epidermolysis Bullosa with Pyloric Atresia.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 12, p. 2815, doi. 10.1038/jid.2008.143
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- Article
Corneodesmosomal Cadherins Are Preferential Targets of Stratum Corneum Trypsin- and Chymotrypsin-like Hyperactivity in Netherton Syndrome.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 7, p. 1622, doi. 10.1038/sj.jid.5700284
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- Article
SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 2, p. 315, doi. 10.1038/sj.jid.5700015
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- Article
A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa.
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- Journal of Investigative Dermatology, 2001, v. 116, n. 1, p. 182, doi. 10.1046/j.1523-1747.2001.00229.x
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- Article
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
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- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4187, doi. 10.1093/hmg/dds243
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- Article
A Common Insertion Mutation in COL7A1 in Two Italian Families With Recessive Dystrophic Epidermolysis Bullosa.
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- Journal of Investigative Dermatology, 1996, v. 106, n. 4, p. 679, doi. 10.1111/1523-1747.ep12345508
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- Article
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.
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- Human Molecular Genetics, 2003, v. 12, n. 19, p. 2417, doi. 10.1093/hmg/ddg247
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- Article
The human integrin β4B and β4C variants are not expressed in a tissue-specific manner
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- FEBS Letters, 2002, v. 519, n. 1-3, p. 238, doi. 10.1016/S0014-5793(02)02750-3
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- Article
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 961
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- Article