Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. [electronic resource]
- Human mutation Aug 2007
- 743-53 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1098-1004
10.1002/humu.20501 doi
Adenosine Triphosphatases--chemistry Amino Acid Sequence Bloom Syndrome--genetics Cell Line DNA Helicases--chemistry DNA Mutational Analysis Exons--genetics Humans Molecular Sequence Data Mutation--genetics RecQ Helicases Registries--statistics & numerical data