A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family
about
The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutationsIn silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.Genomic features defining exonic variants that modulate splicing.Genomic era diagnosis and management of hereditary and sporadic colon cancer.The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution meltingLarge intron 14 rearrangement in APC results in splice defect and attenuated FAP.Adenomatous polyposis coli (APC) is essential for maintaining the integrity of the seminiferous epithelium.PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.Genes in glucose metabolism and association with spina bifidaAnalysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.Novel gene and mutation discovery in congenital long QT syndrome: let's keep looking where the street lamp standeth.Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.Molecular Pathways: Understanding and Targeting Mutant Spliceosomal Proteins.Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.
P2860
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P2860
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@ast
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@en
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@nl
type
label
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@ast
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@en
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@nl
prefLabel
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@ast
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@en
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@nl
P2093
P3181
P356
P1476
A silent mutation in exon 14 o ...... exon skipping in a FAP family
@en
P2093
C Marchese
V Gismondi
P3181
P356
10.1136/JMG.38.12.863
P407
P577
2001-12-01T00:00:00Z