Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

German, James

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