A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome-Reference-Cited by-同舟云学术

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

Published:2007-04-18 Issue:7 Volume:15 Page:743-751
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dauwerse Johannes G,de Vries Bert B A,Wouters Cokkie H,Bakker Egbert,Rappold Gudrun,Mortier Geert R,Breuning Martijn H,Peters Dorien J M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201833.pdf

Reference14 articles.

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2. Dauwerse JG, Jumelet EA, Wessels JW et al: Extensive cross-homology between the long and short arm of chromosome 16 may explain leukemic inversions and translocations. Blood 1992; 79: 1299–1304.

3. Giles RH, Petrij F, Dauwerse JG et al: Construction of a 1.2-Mb contig surrounding and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13. Genomics 1997; 42: 96–114.

4. Breuning MH, Snijdewint FGM, Brunner H et al: Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet 1990; 27: 603–613.

5. Dauwerse JG, Die-Smulders CE, Bakker E, Breuning MH, Peters DJ : Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect. J Med Genet 2002; 39: 686–688.

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