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Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
- Tvrdik, T (author)
- Marcus, S (author)
- Hou, SM (author)
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- Podlutskaja, N (author)
- Hanefeld, F (author)
- Stromme, F (author)
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- (creator_code:org_t)
- 2014-02-17
- 1998
- English.
- In: Human genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 103:3, s. 311-318
- Journal article (peer-reviewed)
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- Tvrdik, T
- Marcus, S
- Hou, SM
- Falt, S
- Noori, P
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- Hanefeld, F
- Stromme, F
- Lambert, B
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- Human genetics
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- Karolinska Institutet
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