The morbid anatomy of the human genome: chromosomal location of mutations causing disease.

Author:

McKusick V A,Amberger J S

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference5 articles.

1. for the mapping;(McKusick, 1992) and OMIMT (Online Mendelian Inheritance in Man). To obtain information on accessing OMIM, contact: In the help(a welch.jhu.edu). In the United Kingdom: Christine Bates, Human Gene Mapping Program Resource Centre, CRC, Watford Road, Harrow, Middx HAl 3UJ, UK (Telephone:

2. In Australia: Alex Reisner, ANGIS, Electrical Engineering Building, J03, University of Sydney, Sydney, NSW 2006, Australia, (Telephone: 61-2-692-294, Fax 61-2-692-3847, e-mail: reisner(a@ee.su.oz.au).

3. Other disorders (labelled with the number 2) are mapped only on the basis of the clinical phenotype which is found to be linked to markers at a particular chromosomal site or the phenotype is found in association with a The morbid anatomy of the human genome chromosomal aberration. Huntington's disease is an example of a disorder mapped by linkage to DNA markers

4. We are indebted to colleagues who have participated in the Human Gene Mapping Workshops 1973 to 1991 and assisted in the collation of data on the human gene map. The development and maintenance of Mendelian Inheritance in Man and its online version OMIM was supported in part by the Howard Hughes Medical Institute from 1986 to 1991. It is now supported, in the main, jointly by the NIH and the DOE as part of the Genome Data Base (GDB), the repository for mapping information coming from the Human Genome Project

5. VA: Mendelian inheritance in man;McKusick,1992

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