Mutations causing nonsense mutations of SSADH from SSADH deficient patients.
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资源简介：
fs = frameshift; X = number of missense residues after the frameshift; Stop = stop codon, termination of the protein. Resulting SSADH protein size has been calculated excluding the 47 amino acid N-terminal mitochondrial signal peptide, the mature protein size is 488 residues. All mutations previously published [9], [36], [37], [38], [40], [41], [42], [60], [61].
创建时间：
2010-02-18
