✦ LIBER ✦

A NOVEL SPLICE ACCEPTOR SITE MUTATION OF THE α2-GLOBIN GENE CAUSING α-THALASSEMIA

✍ Scribed by Noguera, Nélida I.; González, Fernando A.; Dávoli, Rubén A.; Milani, Angela C.; Villegas, Ana

Book ID: 125813381
Publisher: Informa plc
Year: 2001
Tongue: English
Weight: 81 KB
Volume: 25
Category: Article
ISSN: 0363-0269
DOI: 10.1081/HEM-100105224

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel polyadenylation signal mutation

A novel polyadenylation signal mutation in the α2-globin gene causing α thalassaemia

✍ C. L. Harteveld; M. Losekoot; H. Haak; J. G. A. M. Heister; P. C. Giordano; L. F 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB

Novel acceptor splice site mutation in t

Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

✍ Takehiko Matsumura; Hitoshi Osaka; Naoya Sugiyama; Chiaki Kawanishi; Yasuko Maru 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 1 views

We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res

IDENTIFICATION OF TWO NEW α-THALASSEMIA

IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE

✍ Waye, John S.; Eng, Barry; Patterson, Margaret; Carcao, Manuel D.; Chang, Lebe; 📂 Article 📅 2001 🏛 Informa plc 🌐 English ⚖ 99 KB

An IVS-I-117 (G→A) acceptor splice site

An IVS-I-117 (G→A) acceptor splice site mutation in the α 1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population

✍ M. A. Clürük; E. Baysal; R. B. Gupta; S. Sharma; T. H. J. Huisman 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 689 KB

A novel mutation in the alpha 1 globin g

A novel mutation in the alpha 1 globin gene in an Iranian α-thalassemia carrier

✍ Amirian Azam; Karimipour Morteza; Taghavi Basmanj Maryam; Kordafshari Alireza; C 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 61 KB

A novel splice acceptor mutation in the

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II

✍ J.-W. Kim; S.-H. Nam; K.-T. Jang; S.-H. Lee; C.-C. Kim; S.-H. Hahn; J. C.-C. Hu; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 463 KB