Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
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Y. Kinosada | T. Fukao | Toshiyuki Yamamoto | Toju Tanaka | M. Ishige | H. Kouzan | Y. Aoyama | K. Ohara | Naomi Sakaguchi | Tomoko Ichihara | Mika Ishige