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and Genetic Disorder Profiles
Case Studies Created Using Gene Gateway Guides and Tutorials
Genetic Disorder Profiles
The following profiles
serve as examples of the kinds of information you can find using the
guide to Genetic Disorder Information:
- Each profile
features a general description of the disorder adapted from government
publications accessible through MEDLINEplus, a gateway to health-related
resources provided by the National Institutes of Health (NIH).
- Links to sites
for organizations and support groups; diagnostic or genetic testing
information; clinical trials; and other miscellaneous Web resources
for each genetic condition also are included.
The gene profiles
below were created using more technical resources described in Gene
and Protein Database Guide:
- Each profile
includes the official symbol, the name and function of its protein
product, gene locus, and associated traits or disorders, which can
be obtained from the Online Mendelian Inheritance in Man (OMIM) and
NCBI LocusLink databases.
- Graphics showing
where the gene can be found on a chromosome were created using mapping
data available from NCBI Map Viewer.
- Gene size and
sequence information were obtained from sequence records stored in
NCBI sequence databases and literature available on the Web or through
of common gene mutations are available from OMIM, Human Gene Mutation
Database, and other gene-specific mutation databases available on
- Records and
references for protein structures from the Protein Data Bank were
used to examine the structure of each gene's protein product.
May 16, 2003