Results 281 to 286 of about 83,578 (286)

Use of an exon-trapping vector for the evaluation of splice-site mutations

Mammalian Genome, 2007
Prediction of the effects of splice-site variations by sequence analysis is difficult. In this study we provide the means for a rapid evaluation of the potential for splice-site mutations to interfere with RNA processing. The system may be useful in reverse genetics or mapping studies when isolation and characterization of mRNA is arduous or not ...
Andrea Koppius, Reinhard Sedlmeier, Boris Schneider   +2 more
openaire   +2 more sources

Detection of somatic TP53 splice site mutations in diffuse astrocytomas

Cancer Letters, 2005
Alteration in TP53 is the most common genetic event reported for many tumors, including astrocytomas. The majority of studies, on analyzing TP53 mutations, have not included all splice junctions. Consequently, splice site mutations are thought to be relatively infrequent.
Sueli Mieko Oba-Shinjo, Paulo Henrique Pires de Aguiar, Miyuki Uno, Claudia da Costa Leite, Sérgio Rosemberg, Milberto Scaff, Flávio Key Miura, Raul Marino Júnior, Suely Kazue Nagahashi Marie   +8 more
openaire   +3 more sources

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants

Molecular Genetics and Metabolism, 2011
Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-l-iduronidase, encoded by the IDUA gene. More than 100 disease causing mutations have been reported in the gene, resulting in a wide range of phenotypes. Here we describe a previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+
Else Brodtkorb, Lars Mørkrid, Terje Rootwelt, Berit Woldseth, Sara Bremer, Helge Rootwelt, Annika Ohlsson   +6 more
openaire   +3 more sources

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

Gene, 2016
Most cases of CHARGE syndrome are sporadic and autosomal dominant. CHD7 is a major causative gene of CHARGE syndrome. In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such as coloboma, heart defect, choanal atresia, retarded growth, genital abnomalities and ear anomalies.
Mehmet Bugrahan Duz, Un-Kyung Kim, Un-Kyung Kim, Byeonghyeon Lee, Mustafa Ozen, Mustafa Ozen, Asuman Koparir, Jae Young Choi, Mehmet Seven, Adnan Yuksel, Kyu-Yup Lee, Borum Sagong   +11 more
openaire   +4 more sources

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

Human Mutation, 1997
John R. Gilbert, Arun Kumar, Margaret A. Pericak-Vance, A. D. Roses, Chantelle M. Wolpert, R.S. Kandt   +5 more
openaire   +3 more sources

A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease

Human Molecular Genetics, 1993
Sue Malcolm, S Strautnieks
openaire   +3 more sources