Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Miyamoto T; Kanazawa N; Kato S; Kawakami M; Inoue Y; Kuhara T; Inoue T; Takeshita K; Tsujino S; Journal Of Human Genetics, 2001, vol. 46, issue 5, p 260, ISSN 14345161. ISBN 14345161.

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