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Roop, Dennis

One or more keywords matched the following items that are connected to Roop, Dennis

Item Type	Name
Academic Article	Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Academic Article	Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.
Academic Article	Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Academic Article	A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
Academic Article	A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
Academic Article	A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
Academic Article	An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Academic Article	Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Academic Article	Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
Academic Article	Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
Academic Article	Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot.
Concept	Pedigree

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