ABCG8 p.Glu423Asp
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PMID: 16472606
[PubMed]
Miettinen TA et al: "Liver transplantation in a patient with sitosterolemia and cirrhosis."
No.
Sentence
Comment
76
Genetic analyses of DNA from the proband showed that he carried the following 2 mutations: W361X (G1173A) and E423D (G1359T) in ABCG8.
X
ABCG8 p.Glu423Asp 16472606:76:110
status: NEW78 Although the W361X mutation has been previously reported, the E423D has not been described and is novel.18 In more than 100 normal alleles examined, E423D was not detected.
X
ABCG8 p.Glu423Asp 16472606:78:62
status: NEWX
ABCG8 p.Glu423Asp 16472606:78:149
status: NEW