ABCB4 p.Gly19Arg
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PMID: 20414253
[PubMed]
Shapiro R et al: "DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients."
No.
Sentence
Comment
75
The patients from family 3 were compound heterozygotes for two mutations in BSEP-G19R and S226L-and the patient from family 2 had a hemizygous mutation in BSEP-G877R.
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ABCB4 p.Gly19Arg 20414253:75:81
status: NEW