𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distribution of Q188R and N314D mutations in the Hungarian galactosemic population

✍ Scribed by A. Horváth; P. Gyurus; A. Kis; A. László; Á. Schuler; G. Kosztolányi; B. Melegh


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
19 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations of NPM1 gene in de novo acute
✍ Firoz Ahmad; Swarna Mandava; Bibhu Ranjan Das 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 371 KB

## Abstract Mutations in the nucleophosmin (__NPM1__) gene have been recently described to occur in about one‐third of acute myeloid leukaemias (AMLs) and represent the most frequent genetic alteration currently known in this subset, specially in those with normal karyotype. This study explored the

Prevalence of glucocerebrosidase mutatio
✍ Mia Horowitz; Metsada Pasmanik-Chor; Zvi Borochowitz; Tzipora Falik-Zaccai; Kere 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB 👁 2 views

Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi Jew

Prevalence of cystic fibrosis mutations
✍ Charles Coutelle; Roland Brückner; Klaus Grade; Frauke Behrens; Jürgen Gedschold 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected,

Characterization of nondeletion α-thalas
✍ Joanne Traeger-Synodinos; Emmanuel Kanavakis; Maria Tzetis; Antonios Kattamis; P 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB 👁 1 views

a-Thalassemia is usually due to deletions within the a-globin gene cluster, leading to loss of function of one ( -U ) or both [ -( a ) or --I a-globin genes. Nondeletion mutations (denoted a m T or a' . ) are less frequent and in Greece are not well defined. We report the analysis of 16 nondeletion