Results 141 to 150 of about 537,790 (185)

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. [PDF]

Nucleic Acids Res
Thomas R, Miyoshi E, Akman HO, Storz SHR, Goffena J, Pytte J, Miller DE, Skourti-Stathaki K, Crooke ST.   +8 more
europepmc   +1 more source

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments. [PDF]

Orphanet J Rare Dis
Li Q, Wu Y, Meng F, Li Z, Zhan D, Luo X.
europepmc   +1 more source

Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage. [PDF]

BMC Med Genomics
Sun RY, Xu Y, Huang QQ, Hu SS, Xu HZ, Luo YZ, Zhu T, Sun JH, Gong YJ, Zhu MM, Wang HW, Pan JY, Lu CS, Wang D.   +13 more
europepmc   +1 more source

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly. [PDF]

Heliyon
Luo S, Ren L, Wang R, Hu J, Wei W, Feng Y, Huang S.   +6 more
europepmc   +1 more source

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (<i>GLA</i>) gene. [PDF]

Porto Biomed J
Nunes JPL, Soares-Dos-Reis R, Faria MDS, Martins E, Pinho T, Rebelo J, Fonseca RN, Balboa López M, Ferreira S, Oliveira JP.   +9 more
europepmc   +1 more source

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series. [PDF]

Int J Nephrol Renovasc Dis
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D.   +8 more
europepmc   +1 more source

Acute pancreatitis following asparaginase treatment in pediatric acute lymphoblastic leukemia with a heterozygous SPINK1 c.194 + 2T>C intronic variant: a case report. [PDF]

Front Pediatr
Zhou H, Lu J, Wang T, Gu X, Li X, Zhao J.   +5 more
europepmc   +1 more source

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G). [PDF]

Ann Lab Med
Kim J, Yu J, Lee S, Kim S, Lee IS, Lee W, Chun S.   +6 more
europepmc   +1 more source

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Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease

The Journal of Molecular Diagnostics, 2023
Wilson disease (WD) is a hereditary disorder of copper metabolism, resulting from mutations within ATP7B. Early diagnosis is essential for affected individuals. However, there are still patients with clinically suspected WD who do not have detectable pathogenic variants, which makes diagnosis difficult and delays treatment.
Wan-Qing Xu, Rou-Min Wang, Yi Dong, Zhi-Ying Wu   +3 more
openaire   +2 more sources