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: 79A>G; Ser27Gly

PubMed Link: 36277956

Variant Present in the following documents:

• mmc1.pdf

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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: Ser27Gly

PubMed Link: 33554096

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Hepatology Communications

Schatz, Stephanie Barbara SB; Jüngst, Christoph C; Keitel-Anselmo, Verena V; Kubitz, Ralf R; Becker, Christina C; Gerner, Patrick P; Pfister, Eva-Doreen ED; Goldschmidt, Imeke I; Junge, Norman N; Wenning, Daniel D; Gehring, Stephan S; Arens, Stefan S; Bretschneider, Dirk D; Grothues, Dirk D; Engelmann, Guido G; Lammert, Frank F; Baumann, Ulrich U

Publication Date: 2018-05

Variant appearance in text: ABCB4: 79A>G

PubMed Link: 29761167

Variant Present in the following documents:

• Main text
• HEP4-2-504.pdf

View BVdb publication page