✦ LIBER ✦

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

✍ Scribed by J. P. Gau; H. C. Hsu; W. K. Chau; C. H. Ho

Book ID: 105988216
Publisher: Springer
Year: 2003
Tongue: English
Weight: 68 KB
Volume: 82
Category: Article
ISSN: 0939-5555
DOI: 10.1007/s00277-003-0657-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Mutational analysis of ectopic factor VI

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

✍ Kamiab Tavassoli; Antonin Eigel; Hartmut Pollmann; Jürgen Horst 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 32 KB

A novel non sense mutation in exon 72 of

A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient

✍ M.A. Melis; F. Muntoni; M. Cau; D. Loi; A. Puddu; L. Boccone; A. Mateddu; C. Cia 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 114 KB

Grey, a novel mutation in the murineLyst

Grey, a novel mutation in the murineLystgene, causes thebeigephenotype by skipping of exon 25

✍ Fabian Runkel; Heinrich Büssow; Kevin L. Seburn; Gregory A. Cox; Diane McVey War 📂 Article 📅 2006 🏛 Springer-Verlag 🌐 English ⚖ 770 KB

Molecular diagnostics of 15 hemophilia A

Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping

✍ Kamiab Tavassoli; Antonin Eigel; Klaus Wilke; Hartmut Pollmann; Jürgen Horst 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB 👁 2 views

The X-linked bleeding disorder hemophilia A is caused by mutations in the coagulation factor VIII gene. A high frequency of de novo mutations and the large size of this gene complicate the molecular diagnostic of hemophilia A. Characterization of mutations, however, may help identify amino acids or

A novel point mutation in a splice accep

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping

✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB 👁 2 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in