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A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Huie, M L; Shanske, A L; Kasper, J S; Marion, R W; Hirschhorn, R.
Affiliation
  • Huie ML; New York University Medical Center, Department of Medicine 10016, USA.
Hum Genet ; 104(1): 94-8, 1999 Jan.
Article in En | MEDLINE | ID: mdl-10071199
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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Polymerase Chain Reaction / Sequence Deletion / Alu Elements Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 1999 Document type: Article Affiliation country: United States Country of publication: Germany
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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Polymerase Chain Reaction / Sequence Deletion / Alu Elements Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 1999 Document type: Article Affiliation country: United States Country of publication: Germany