Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the <i>ALDH5A1</i> Gene

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Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T:
Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103-121del and 1460T > A of the ALDH5A1 Gene.
Hum Hered 2002;53:42-44 (DOI: 10.1159/000048603)

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