Related references
Note: Only part of the references are listed.Mutation deep within an intron of MSH2 causes Lynch syndrome
Mark Clendenning et al.
FAMILIAL CANCER (2011)
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
A. Rohlin et al.
ONCOGENE (2011)
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype
Florentia Fostira et al.
FAMILIAL CANCER (2010)
Large intron 14 rearrangement in APC results in splice defect and attenuated FAP
Therese M. F. Tuohy et al.
HUMAN GENETICS (2010)
The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria
Katerina Homolova et al.
HUMAN MUTATION (2010)
MUTYH-associated polyposis
Julian R. Sampson et al.
BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY (2009)
Analysis of Rare APC Variants at the mRNA Level Six Pathogenic Mutations and Literature Review
Astrid Kaufmann et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Patterns of missplicling caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
Katherine Zhang et al.
HUMAN MUTATION (2008)
Alternative splicing of Alu exons -: two arms are better than one
Nurit Gal-Mark et al.
NUCLEIC ACIDS RESEARCH (2008)
Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families
Jordi Romero-Gimenez et al.
INTERNATIONAL JOURNAL OF CANCER (2008)
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation
Catherine Dehainault et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Alu elements as regulators of gene expression
Julien Haesler et al.
NUCLEIC ACIDS RESEARCH (2006)
Familial adenomatous polyposis
P Galiatsatos et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2006)
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous
ET Renkonen et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene
KE Nichols et al.
HUMAN MUTATION (2005)
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
C Beroud et al.
NEUROMUSCULAR DISORDERS (2004)
Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene
S Aretz et al.
HUMAN MUTATION (2004)
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
S Tuffery-Giraud et al.
HUMAN MUTATION (2003)
Pre-mRNA splicing and human disease
NA Faustino et al.
GENES & DEVELOPMENT (2003)
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome
K King et al.
HUMAN GENETICS (2002)
Analysis of canonical and non-canonical splice sites in mammalian genomes
M Burset et al.
NUCLEIC ACIDS RESEARCH (2000)
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
LK Su et al.
HUMAN GENETICS (2000)