✦ LIBER ✦

Systematic screening for RNA with skipped exons - splicing mutations of the ferrochelatase gene

✍ Scribed by Xiuhua Wang; Maureen Poh-Fitzpatrick; Timothy Chen; Kishor Malavade; Damaris Carriero; Sergio Piomelli

Book ID: 116159932
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 433 KB
Volume: 1271
Category: Article
ISSN: 0925-4439
DOI: 10.1016/0925-4439(95)00059-d

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Haplotype analysis in four families with

Haplotype analysis in four families with an exon skipping mutation in the ferrochelatase gene

✍ Wang, X; Kurtz, L; Bloomer, J; Christiano, A; Poh-Fitzpatrick, M 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 190 KB

A presumed missense mutation of RPGR cau

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

✍ F.Yesim K. Demirci; Amy L. Radak; Brian W. Rigatti; Tammy S. Mah; Michael B. Gor 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 142 KB

A novel splicing acceptor mutation of th

A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25

✍ J. P. Gau; H. C. Hsu; W. K. Chau; C. H. Ho 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 145 KB

A novel splicing acceptor mutation of th

A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25

✍ J. P. Gau; H. C. Hsu; W. K. Chau; C. H. Ho 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 68 KB

Detection of a novel splice-site mutatio

Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome

✍ Ta-i Ariga; Masafumi Yamada; Florecita R. Padua; Yukio Sakiyama 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 225 KB

Exon 6 skipping in the fanconi anemia C

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

✍ Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity