ABCC3 p.Ser346Ile
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PMID: 15841457
[PubMed]
Keitel V et al: "Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis."
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Clinical and Laboratory Parameters of PFIC Patients Patients Clinical Parameters Laboratory Parameters Diagnosis Onset of Symptoms Age at LTx BS (<8 M) ␥GT (<25 U/l) Bilirubin (<1 mg/dL) MDR3-Mutation MDR3- IF BSEP- IF PFIC Type C1 F.A. 4 m 3 y 5 m 47 7 1.3 None detected ϩ - 2 C2 A.A. 3 m 2 y 5 m 144 19 22.6 None detected ϩ - 2 C3 S.H. 3 m 3 y 3 m 616 77 22.7 None detected ϩ - 2 C4 M.D. 6 m 10 y 7 m 160 7 5.4 None detected ϩ - 2 C5 T.A. 6 m 4 y 2 m 414 11 5.4 555 A 3 G/T175A Heterozygous ϩ - 2 C6 M.D. 4 m 7 y 9 m 163 26 11.2 1069 G 3 T/S346I ϩ ϩ 3 C7 S.F. birth 8 y 7 m 299 250 1.9 1069 G 3 T/8346I* ϩ ϩ 3 C8 K.Y. 6 m 3 y 10 m 85 277 0.5 2890 C 3 A/A953D ϩ ϩ 3 C9 K.B. 4 m 3 y 8 m 360 165 1.1 426-432 del† - ϩ 3 C10 B.D. 7 y 11 y 4 m 199 24 20.7 None detected - ϩ 3 NOTE.
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ABCC3 p.Ser346Ile 15841457:38:587
status: NEW