## Abstract We have constructed a 1.4‐Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a patient with neuroblastoma. Three 17q breakpoint‐overlapping cosmids were identified and sequenc
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients
✍ Scribed by Kristina Becker; Carsten Hohoff; Bernhard Schmitt; Hans-Jürgen Christen; Bernd A. Neubauer; Torsten Sandrieser; Cord-Michael Becker
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 164 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by
📜 SIMILAR VOLUMES
Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84 % of all mutant alleles were identified in this
The t( 14; 19)(q32.3;q I 3. I ) is a recurring translocation found in the neoplastic cells of some patients with chronic lymphocytic leukemia (CLL). W e have previously cloned the translocation breakpoint junction present in the leukemic cells from one such patient. In the present study, we have clo
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate