Brockschmidt, Antje; Chung, Boidinh; Weber, Stefanie; Fischer, Dagmar-Christiane; Kolatsi-Joannou, Maria; Christ, Laura; Heimbach, André; Shtiza, Diamant; Klaus, Günter; Simonetti, Giacomo D; Konrad, Martin; Winyard, Paul; Haffner, Dieter; Schaefer, Franz; Weber, Ruthild G (2012). CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). Nephrology, dialysis, transplantation, 27(6), pp. 2355-64. Oxford: Oxford University Press 10.1093/ndt/gfr649
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Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital anomalies of the kidneys and urinary tract (CAKUT) patient.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Simonetti, Giacomo |
ISSN: |
0931-0509 |
ISBN: |
0931-0509 |
Publisher: |
Oxford University Press |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:24 |
Last Modified: |
05 Dec 2022 14:07 |
Publisher DOI: |
10.1093/ndt/gfr649 |
PubMed ID: |
22146311 |
Web of Science ID: |
000304832100036 |
Additional Information: |
Brockschmidt, Antje Chung, Boidinh Weber, Stefanie Fischer, Dagmar-Christiane Kolatsi-Joannou, Maria Christ, Laura Heimbach, Andre Shtiza, Diamant Klaus, Guenter Simonetti, Giacomo D. Konrad, Martin Winyard, Paul Haffner, Dieter Schaefer, Franz Weber, Ruthild G. |
BORIS DOI: |
10.7892/boris.8351 |
URI: |
https://boris.unibe.ch/id/eprint/8351 (FactScience: 213877) |
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