Results 191 to 200 of about 3,322,892 (202)

Severe splice site mutation preceding exon 9 of the CFTR gene

Human Molecular Genetics, 1993
Burkhard Tümmler, Thilo Dörk, R Fislage   +2 more
exaly  

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

Journal of the Neurological Sciences, 2014
Mingfan Hong, Zhong-Xing Peng, Qing-Yun Yu   +2 more
exaly  

Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A→G Splice-Donor–Site Mutation at Position +3 of the Collagenlike-Tail–Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing?

American Journal of Human Genetics, 1999
Kinji Ohno, Joan M Brengman, Kevin J Felice   +2 more
exaly  

A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

Human Genetics, 2001
O Sakamoto, Shigeaki Miyabayashi, Toshihiro Ohura   +2 more
exaly  

A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

Cell, 1986
Alan M Weiner
exaly  

Frame Shift Mutation, Exon Skipping, and a Two-Codon Deletion Caused by Splice Site Mutations Account for Pyruvate Kinase Deficiency

Blood, 1997
Ichiro Tsukimoto, Li Chong Chan, Akira Hirono   +2 more
exaly  

A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency

British Journal of Haematology, 1997
Christine Mannhalter, Michael A Fischer, Ingrid Pabinger   +2 more
exaly  

A novel recurrent LIS1 splice site mutation in classic lissencephaly

American Journal of Medical Genetics, Part A, 2017
Julie Steffann, Nadia Bahi-Buisson, Alice Goldenberg   +2 more
exaly  

A homozygous splice site mutation in causes intellectual disability and microcephaly

European Journal of Medical Genetics, 2012
Guntram Borck, Christian Kubisch, Naseebullah Kakar   +2 more
exaly  

An IVS1–116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

British Journal of Haematology, 1996
Piero C Giordano, M Losekoot, C L Harteveld   +2 more
exaly