ABCMdb

PMID: 16868810

Nobili V, Di Giandomenico S, Francalanci P, Callea F, Marcellini M, Santorelli FM
A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.
J Gastroenterol. 2006 Jun;41(6):598-603., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCB11 p.Ile541Leu This novel mutation resides at nucleotide position (np) 1621 in the corresponding cDNA (p.Ile541Leu). Login to comment 50 ABCB11 p.Ile541Leu The functional consequence of the p.Ile541Leu variant is reflected in the absence of immunolabeling with a specific BSEP antibody in liver tissue from patient 1, although the precise causal mechanism remains unknown.7 Importantly, the identification of this variant in ABCB11 will allow better counseling of this family in order to avoid recurrence of the disease in another child. Login to comment 59 ABCB11 p.Ile541Leu B Electropherogram of the sequence flanking the new p.Ile541Leu change in ABCB11. Login to comment 63 ABCB11 p.Ile541Leu Codons are boxed A B mV 20 10 0 0 1 2 Control 0 240 250 260 240 II-02 I541L 250 260 C A A T G C C T A C A A C T T C A T C A T G G A C C T G C C A C C A A T G C C T A C A A C T T C C C T C A T G G A C C T G C C A C N A Y N F I M D L P 3 4 Fig. 3. Login to comment 64 ABCB11 p.Ile541Leu A Restriction fragment length polymorphism analysis was employed to confirm the c.1621A > C (p.Ile541Leu) mutation in ABCB11. Login to comment