Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Item
http://www.wikidata.org/entity/Q57263722
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyA L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduriaQuantitative analysis of mammalian translation initiation sites by FACS-seqA novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.DHX29 reduces leaky scanning through an upstream AUG codon regardless of its nucleotide context.Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.TITER: predicting translation initiation sites by deep learning.A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
P2860

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Item
http://www.wikidata.org/entity/Q57263722
description
article
@en
im September 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2011
@uk
name
Single base-pair substitutions ...... s a cause of inherited disease
@en
Single base-pair substitutions ...... s a cause of inherited disease
@nl
type
label
Single base-pair substitutions ...... s a cause of inherited disease
@en
Single base-pair substitutions ...... s a cause of inherited disease
@nl
prefLabel
Single base-pair substitutions ...... s a cause of inherited disease
@en
Single base-pair substitutions ...... s a cause of inherited disease
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Single base-pair substitutions ...... s a cause of inherited disease
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698