Results 191 to 200 of about 1,070 (211)

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Human Mutation, 1999
Small consensus sequences have been defined for RNA splicing, but questions about splicing in humans remain unanswered. Analysis of germline mutations in the factor IX gene offers a highly advantageous system for studying the mutational process in humans.
R P, Ketterling, J B, Drost, W A, Scaringe, D Z, Liao, J Z, Liu, C K, Kasper, S S, Sommer   +6 more
openaire   +2 more sources

Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene

Thrombosis and Haemostasis, 2005
SummaryLow FVII coagulant activity (FVII:C 8.2%) and antigen level (FVII:Ag 34.1%) in a 46-year-old Chinese male led to a diagnosis of coagulation factor VII (FVII) deficiency. Compound heterozygous mutations were identified in his F7 gene:a G to A transition in the 5’ donor splice site of intron 1a (IVS1a+5g>a) and a T to G transition at the ...
Qiulan, Ding, Wenman, Wu, Qihua, Fu, Xuefeng, Wang, Yiqun, Hu, Hongli, Wang, Zhenyi, Wang   +6 more
openaire   +2 more sources

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

Medicina (Lithuania), 2020
Anetta Undas, Ewa Wypasek, Daniel Piotr Potaczek   +2 more
exaly  

A novel splice site mutation (156 + 1G→A) in the TSC2 gene

Human Mutation, 1997
A, Kumar, R S, Kandt, C, Wolpert, A D, Roses, M A, Pericak-Vance, J R, Gilbert   +5 more
openaire   +2 more sources

The splice is not right: splice-site-creating mutations in cancer genomes

2018
openaire   +2 more sources

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

American Journal of Human Genetics, 1999
Peter H Byers, Ulrike Schwarze, B J Starman   +2 more
exaly  

A novel splice-site mutation in the LRP5 gene causing Familial Exudative Vitreoretinopathy

Gene Reports, 2020
Majid Yavarian
exaly  

Splice Site Mutation

2006
openaire   +1 more source

A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

International Journal of Ophthalmology, 2017
Ke Yao, Meng-Han Wu
exaly  

Identification and characterization of a novel splice-site mutation in the Wilson disease gene

Journal of the Neurological Sciences, 2014
Mingfan Hong
exaly