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17q21.2

A chromosome band present on 17q
National Institutes of Health

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10 relations
17qChromosomesEIF1 wt AlleleKRT13 wt Allele

Papers overview

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2016
2016
Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau…
2016
2016
Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene.
2016
2016
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
2016
2016
[Congenital pachyonychia: A new case associated with the KRT17 gene].
Review
2014
Review
2014
Mucopolysaccharidosis III: Molecular genetics and genotype- phenotype correlations
Introduction Sanfilippo Syndrome or Mucopolysaccharidosis III (MPS III) is a group of lysosomal storage diseases resulting from a… 
2011
2011
Cortical bone health shows significant linkage to chromosomes 2p, 3p, and 17q in 10-year-old children.
2004
2004
Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization
SummaryWe have further regionally localized the gene for human acid alpha glucosidase (GAA) to 17q21→q23 by examinaiton of hybrid… 
2001
2001
Human puromycin-sensitive aminopeptidase: cloning of 3′ UTR, evidence for a polymorphism at aa 140 and refined chromosomal localization to 17q21
Puromycin-sensitive aminopeptidase is a predominantly cytoplasmatic zinc-dependent exopeptidase. Its physiological function is… 
1998
1998
Stochastic determination of the chromosomal region responsible for expression of human glial fibrillary acidic protein in astrocytic tumors
1996
1996
Isolation and mapping of a human gene (RABL) encoding a small GTP-binding protein homologous to the Ras-related RAB gene.
Many subgroups of the RAB gene, a member of the RAS superfamily have been identified. Here we report the isolation and analysis… 
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