Associated Papers
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.
Bonnin A et al.
Journal of Inherited Metabolic Disease, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-
Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.
Sies CW et al.
Pathology, 2005
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
Wiman A et al.
Clinical Genetics, 2003
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Morgan RR et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2002
Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing hplc.
Christiansen L et al.
Clinical Chemistry, 2001
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Whatley SD et al.
American Journal of Human Genetics, 1999
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Deybach JC et al.
Human Molecular Genetics, 1996
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