✦ LIBER ✦

A single base mutation in the 5′ splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line

✍ Scribed by Rouer, Evelyne; Brule, Fabienne; Benarous, Richard

Book ID: 110062147
Publisher: Nature Publishing Group
Year: 1999
Tongue: English
Weight: 615 KB
Volume: 18
Category: Article
ISSN: 0950-9232
DOI: 10.1038/sj.onc.1202720

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A point mutation in the 5′ splice region

A point mutation in the 5′ splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA

✍ Hiroshi Kawamoto; Kazuhiko Ito; Saburo Kashii; Sumie Monden; Masahiro Fujita; Mi 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB

An adenosine deaminase (ADA;EC 3.5.4.4bdeficient B lymphoblastoid cell line BAD05 derived from a Japanese patient with severe combined immunodeficiency was characterized. As previously reported, one allele of BAD05 expresses undetectable ADA mRNA, and the other allele produces an aberrant mRNA witho

A point mutation in the splice donor sit

A point mutation in the splice donor site of intron 7 in the αs2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping

✍ G. Cosenza; A. Pauciullo; M. Feligini; A. Coletta; L. Colimoro; D. Di Berardino; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB

Mitochondrial acetoacetyl-coenzyme a thi

Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency

✍ Toshiyuki Fukao; Xiang-Qian Song; Seiji Yamaguchi; Tadao Orii; Ronald J. A. Wand 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 567 KB

Differential splicing of COL4A5 mRNA in

Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain

✍ Caiying Guo; Boudewijn Damme; Rita Damme-Lombaerts; Herman Berghe; Jean-Jacques 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 110 KB

Differential splicing of COL4A5 mRNA in

Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain

✍ Guo, Caiying; Van Damme, Boudewijn; Van Damme-Lombaerts, Rita; Van den Berghe, H 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 560 KB

A novel splice-acceptor site mutation (I

A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript

✍ Anna Thongnoppakhun; Nanyawan Rungroj; Prapon Wilairat; Kriengsak Vareesangthip; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB 👁 3 views

Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1