𝔖 Bobbio Scriptorium
✦   LIBER   ✦

ATaqI polymorphism in the human erythroid β spectrin gene

✍ Scribed by L. Beeton; J. T. Prchal; T. L. Coetzer


Publisher
Springer
Year
1995
Tongue
English
Weight
113 KB
Volume
95
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


F329L polymorphism in the human PAX8 gen
✍ Torban, E.; Pelletier, J.; Goodyer, P. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We screened patients with juvenile nephronophthisis for mutations of the tightly linked PAX8 gene. No disease-associated mutations were found, but we identified the first known human PAX8 polymorphism, F329L, in 1 of 15 patients and 2 of 20 controls. This polymorphic variant involves a conservative

DNA methylation patterns of the γδβ-glob
✍ L. S. L. Loo; Dr. M. N. Cauchi 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB 👁 1 views

An investigation of the correlation between the y->p-globin switch and DNA methylation was carried out. The restriction patterns obtained with methylation-sensitive and -insensitive enzymes indicated hypomethylation in the promoter region of the r-globin genes in fetal liver DNA but high methylation

Dinucleotide repeat polymorphism in the
✍ Makoto Daimon; Yoshihiro Morita; Keiichi Yamatani; Masahiko Igarashi; Norio Fuka 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 76 KB

We have identified a GT dinucleotide repeat polymorphism in intron 14 of the human ceruloplasmin gene. Observed heterozygosity for the polymorphism is 0.84.

Three novel polymorphisms in the β globi
✍ A. Nadkarni; T. Sakaguchi; A. Gorakshakar; S. Phanasgaonkar; R. Colah; D. Mohant 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB 👁 1 views

## Abstract We report on three novel polymorphisms in and around the β globin gene. Two of them are intronic (IVS2) polymorphisms (IVS 2 nt 200–203 (−CTTT) and IVS2 82–83 (−AG)). The third is a novel G→C substitution at nt +1707 related to the β globin cap site. This +1707 G→C polymorphism was dete