Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease
about
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
Q33765243-1DC43A71-17DE-4952-BB3D-09F0B50A2824Q34352728-FBD6383B-2C78-4A51-B361-CFFB4A64CA58Q35234645-1991D56F-EFD9-40A8-81BD-0A3467161470Q36828150-5E76C2A8-FE57-41EC-90BF-419B9D218428Q36914646-3FB6DD7B-A742-46B0-8925-3B96415959BDQ37512093-62030E40-64D6-4D49-A6BD-2B3DF30090B3Q38311905-070ADED2-065E-49BB-AB7A-A5FE90DBFFF8Q41158693-AE4DCE15-3E38-4A57-B3BE-C126B227383CQ42688874-69C7196D-BE28-456F-990F-B15316C11411Q44641842-96A8FD73-2874-42E5-8473-97D2618925FFQ47850664-7C089A17-7E0A-4C9D-B31C-D91AFAF17E0B
P2860
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease
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
P2093
P2860
P356
P1433
P1476
Single base-pair substitutions ...... s a cause of inherited disease
@en
P2093
Amke Caliebe
Andreas Wolf
Edward V. Ball
Matthew Mort
Nick S.T. Thomas
Peter D. Stenson
P2860
P304
P356
10.1002/HUMU.21547
P577
2011-09-08T00:00:00Z