Imperial College London

ProfessorAnneBowcock

Faculty of MedicineNational Heart & Lung Institute

Visiting Professor
 
 
 
//

Contact

 

+44 (0)20 7594 1511a.bowcock

 
 
//

Location

 

Guy Scadding BuildingRoyal Brompton Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Bowcock:1987,
author = {Bowcock, AM and Farrer, LA and Cavalli-Sforza, LL and Hebert, JM and Kidd, KK and Frydman, M and Bonne-Tamir, B},
journal = {Am J Hum Genet},
pages = {27--35},
title = {Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.},
url = {https://www.ncbi.nlm.nih.gov/pubmed/3474893},
volume = {41},
year = {1987}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.
AU - Bowcock,AM
AU - Farrer,LA
AU - Cavalli-Sforza,LL
AU - Hebert,JM
AU - Kidd,KK
AU - Frydman,M
AU - Bonne-Tamir,B
EP - 35
PY - 1987///
SN - 0002-9297
SP - 27
TI - Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
T2 - Am J Hum Genet
UR - https://www.ncbi.nlm.nih.gov/pubmed/3474893
VL - 41
ER -