(Q41458193)
Statements
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A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). (English)
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Huie ML
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Chen AS
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Brooks SS
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Grix A
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Hirschhorn R
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1 July 1994
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Identifiers
1 reference