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The protein encoded by EBP is an integral membrane protein of the endoplasmic reticulum. De plus, nous expédions EBP Anticorps (46) et EBP Protéines (3) et beaucoup plus de produits pour cette protéine.
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This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2.
With non-mosaic EBP mutations in males.
Elastin (Montrer ELN Kits ELISA) binding protein and FKBP65 (Montrer FKBP10 Kits ELISA) modulate the kinetics of self-assembly of tropoelastin (Montrer ELN Kits ELISA) in an in vitro system.
Results show a clear relationship between abnormal sterol profile and the EBP gene mutation
postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia (Montrer COL11A1 Kits ELISA) punctata associated with a novel EBP mutation.
Molecular analysis of EBP mutations were made.
Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness.
We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation.
two unrelated Thai girls with chondrodysplasia (Montrer COL11A1 Kits ELISA) punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC.
Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).
The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist
, D8-D7 sterol isomerase
, emopamil-binding protein
, cholestenol Delta-isomerase
, phenylalkylamine binding protein
, delta(8)-Delta(7) sterol isomerase
, emopamil binding protein (sterol isomerase)
, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
, emopamil-binding protein (sterol isomerase)
, sterol 8-isomerase
, phenylalkylamine Ca2+ antagonist (emopamil) binding protein