Thomas Jefferson University

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Mcgrath, John
One or more keywords matched the following items that are connected to Mcgrath, John
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Concept DNA Primers
Academic Article Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Academic Article Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Academic Article Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
Academic Article A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
Academic Article A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.
Academic Article A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Academic Article Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3.
Academic Article Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Academic Article Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
Academic Article The molecular basis of dystrophic epidermolysis bullosa in Mexico.
Academic Article Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
Academic Article Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Academic Article A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis.
Academic Article Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
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