Imperial College London

ProfessorAnneBowcock

Faculty of MedicineNational Heart & Lung Institute

Visiting Professor
 
 
 
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Contact

 

+44 (0)20 7594 1511a.bowcock

 
 
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Location

 

Guy Scadding BuildingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Bowcock:1988,
author = {Bowcock, AM and Farrer, LA and Hebert, JM and Agger, M and Sternlieb, I and Scheinberg, IH and Buys, CH and Scheffer, H and Frydman, M and Chajek-Saul, T},
journal = {Am J Hum Genet},
pages = {664--674},
title = {Eight closely linked loci place the Wilson disease locus within 13q14-q21.},
url = {https://www.ncbi.nlm.nih.gov/pubmed/3189332},
volume = {43},
year = {1988}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Wilson disease (WD) is an autosomal recessive disorder resulting in an accumulation of copper in the liver, brain, and other organs. The WD locus (WND) has previously been linked to esterase D (ESD) and localized to 13q14-22. With the large Centre d'Etude Polymorphisme Humain cohort, a refined map of DNA markers from this region was constructed, with the following locus order: D13S1-D13S21-D13S22-D13S10-ESD-RB-WND-D 13S26-D13S12-D13S2. A significant excess of male recombination was observed between D13S21 and D13S22. Intervals distal to D13S22 showed an excess of female recombination. When these markers were tested on 19 WD families from a variety of ethnic backgrounds, the two closest loci were shown to be RB and D13S26. The retinoblastoma gene locus (RB) was shown to be proximal to WND at a distance of 4.4 centimorgans (cM), and D13S26 was placed distal to WND at a distance of 4.0 cM. ESD was assigned proximally at a distance of 9.4 cM. In all families studied WND was linked to one or more of the loci ESD, RB, or D13S26.
AU - Bowcock,AM
AU - Farrer,LA
AU - Hebert,JM
AU - Agger,M
AU - Sternlieb,I
AU - Scheinberg,IH
AU - Buys,CH
AU - Scheffer,H
AU - Frydman,M
AU - Chajek-Saul,T
EP - 674
PY - 1988///
SN - 0002-9297
SP - 664
TI - Eight closely linked loci place the Wilson disease locus within 13q14-q21.
T2 - Am J Hum Genet
UR - https://www.ncbi.nlm.nih.gov/pubmed/3189332
VL - 43
ER -