PMID: 16472606

Miettinen TA, Klett EL, Gylling H, Isoniemi H, Patel SB
Liver transplantation in a patient with sitosterolemia and cirrhosis.
Gastroenterology. 2006 Feb;130(2):542-7., [PubMed]
Sentences
No. Mutations Sentence Comment
76 ABCG8 p.Trp361*
X
ABCG8 p.Trp361* 16472606:76:91
status: NEW
view ABCG8 p.Trp361* details
ABCG8 p.Glu423Asp
X
ABCG8 p.Glu423Asp 16472606:76:110
status: NEW
view ABCG8 p.Glu423Asp details
 Genetic analyses of DNA from the proband showed that he carried the following 2 mutations: W361X (G1173A) and E423D (G1359T) in ABCG8. Login to comment 78 ABCG8 p.Trp361*
X
ABCG8 p.Trp361* 16472606:78:13
status: NEW
view ABCG8 p.Trp361* details
ABCG8 p.Glu423Asp
X
ABCG8 p.Glu423Asp 16472606:78:62
status: NEW
view ABCG8 p.Glu423Asp details
ABCG8 p.Glu423Asp
X
ABCG8 p.Glu423Asp 16472606:78:149
status: NEW
view ABCG8 p.Glu423Asp details
 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. Login to comment