Shwachman-Diamond Syndrome
A Shwachman-Diamond Syndrome Information Blog
Saturday, February 9, 2008
The Common SBDS Mutations
The common SBDS mutations are found on chromosome 7, exon 2—
[183_184TA-->CT] K62X
[258+2T-->C] 84Cfs3
[183_184TA-->CT and 258+2T -->C] K62X
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