Results 121 to 130 of about 9,190 (179)

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target <i>ABCA4</i> splice variants in Stargardt disease. [PDF]

Mol Ther Nucleic Acids
Liou RH, Urrutia-Cabrera D, Liu CF, Wu S, Westin IM, Golovleva I, Liu GS, Kumar S, McLenachan S, Chen FK, Hsu FT, Huang CL, Edwards T, Martin KR, Cheng AW, Wong RCB.   +15 more
europepmc   +1 more source

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome. [PDF]

Sci Rep
Kikuchi S, Wada N, Mariya T, Ishikawa A, Kihara M, Furukawa S, Kato H, Nishio Y, Ogi T, Ohsaki Y, Tachi N.   +10 more
europepmc   +1 more source

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome. [PDF]

BMC Med Genomics
Liao B, Shuai M, Xiao L, Huang G, He Y, Wang YL, Wang H, He S.   +7 more
europepmc   +1 more source

Identification and Targeted Correction of a Pathogenic <i>PMP22</i> Deep Intronic Variant. [PDF]

Int J Mol Sci
Chausova P, Murtazina A, Bychkov I, Anisimova I, Ilyushkina A, Mollaeva K, Magomedova A, Tabakov V, Hegay T, Chukhrova A, Polyakov A.   +10 more
europepmc   +1 more source

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease. [PDF]

J Peripher Nerv Syst
Maino A, Hazane-Puch F, Petiot P, Roux-Buisson N, Rendu J, Fauré J, Hardy G.   +6 more
europepmc   +1 more source

Novel Compound Heterozygous Variants in <i>CDH3</i> Cause Congenital Hypotrichosis with Juvenile Macular Dystrophy: A Case Report with Longitudinal Imaging and Functional Validation. [PDF]

Case Rep Ophthalmol
Lin Y, Yu P, Cui S, Xiong S, Zhou Y, Chen Y, Lin J.   +6 more
europepmc   +1 more source

Identification of the novel c.149-8C>G splicing variant in RHCE*02 that weakens C antigen expression. [PDF]

Transfusion
Tournamille C, Fichou Y, Benech C, Braga GN, Devaux L, Flahaut R, Floch A.   +6 more
europepmc   +1 more source

A novel JK-null allele due to splicing variant. [PDF]

Transfusion
Tournamille C, Fichou Y, Benech C, Muralitharan V, Levy C, Heng E, Bouly N, Floch A.   +7 more
europepmc   +1 more source