Publications:

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Jhep Reports : Innovation In Hepatology

Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L

Publication Date: 2022-11

Variant appearance in text: ABCB4: 524C>T; Thr175Met

PubMed Link: 36277956

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Genes

Jeyaraj, Rebecca R; Bounford, Kirsten McKay KM; Ruth, Nicola N; Lloyd, Carla C; MacDonald, Fiona F; Hendriksz, Christian J CJ; Baumann, Ulrich U; Gissen, Paul P; Kelly, Deirdre D

Publication Date: 2021-11-21

Variant appearance in text: ABCB4: 524C>T

PubMed Link: 34828443

Variant Present in the following documents:

• Main text
• genes-12-01837.pdf

View BVdb publication page

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Jhep Reports : Innovation In Hepatology

Dong, Catherine C; Condat, Bertrand B; Picon-Coste, Magalie M; Chrétien, Yves Y; Potier, Pascal P; Noblinski, Béatrice B; Arrivé, Lionel L; Hauuy, Marie-Pierre MP; Barbu, Véronique V; Maftouh, Anware A; Gaouar, Farid F; Ben Belkacem, Karima K; Housset, Chantal C; Poupon, Raoul R; Zanditenas, David D; Chazouillères, Olivier O; Corpechot, Christophe C

Publication Date: 2021-04

Variant appearance in text: ABCB4: Thr175Met

PubMed Link: 33554096

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page