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Molecular characterization of two deletion events involvingAlu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

✍ Scribed by T. Tvrdik; Suzanne Marcus; Sai-Mei Hou; Susann Fält; Peri Noori; Natalia Podlutskaja; Folker Hanefeld; Petter Strømme; Bo Lambert


Publisher
Springer
Year
1998
Tongue
English
Weight
124 KB
Volume
103
Category
Article
ISSN
0340-6717

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