Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium

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DOI
10.1016/j.jhepr.2022.100626
Published
2023 Feb
Container
JHEP reports : innovation in hepatology
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.jhepr.2022.100626,
  title = {Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.},
  author = {Felzen A and van Wessel DBE and Gonzales E and Thompson RJ and Jankowska I and Shneider BL and Sokal E and Grammatikopoulos T and Kadaristiana A and Jacquemin E and Spraul A and Lipiński P and Czubkowski P and Rock N and Shagrani M and Broering D and Nicastro E and Kelly D and Nebbia G and Arnell H and Fischler B and Hulscher JBF and Serranti D and Arikan C and Polat E and Debray D and Lacaille F and Goncalves C and Hierro L and Muñoz Bartolo G and Mozer-Glassberg Y and Azaz A and Brecelj J and Dezsőfi A and Calvo PL and Grabhorn E and Hartleif S and van der Woerd WJ and Kamath BM and Wang JS and Li L and Durmaz Ö and Kerkar N and Jørgensen MH and Fischer R and Jimenez-Rivera C and Alam S and Cananzi M and Laverdure N and Ferreira CT and Guerrero FO and Wang H and Sency V and Kim KM and Chen HL and de Carvalho E and Fabre A and Bernabeu JQ and Zellos A and Alonso EM and Sokol RJ and Suchy FJ and Loomes KM and McKiernan PJ and Rosenthal P and Turmelle Y and Horslen S and Schwarz K and Bezerra JA and Wang K and Hansen BE and Verkade HJ and NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium},
  year = {2023},
  journal = {JHEP reports : innovation in hepatology},
  doi = {10.1016/j.jhepr.2022.100626},
  url = {https://doi.org/10.1016/j.jhepr.2022.100626}
}

RIS

TY  - JOUR
TI  - Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
AU  - Felzen A
AU  - van Wessel DBE
AU  - Gonzales E
AU  - Thompson RJ
AU  - Jankowska I
AU  - Shneider BL
AU  - Sokal E
AU  - Grammatikopoulos T
AU  - Kadaristiana A
AU  - Jacquemin E
AU  - Spraul A
AU  - Lipiński P
AU  - Czubkowski P
AU  - Rock N
AU  - Shagrani M
AU  - Broering D
AU  - Nicastro E
AU  - Kelly D
AU  - Nebbia G
AU  - Arnell H
AU  - Fischler B
AU  - Hulscher JBF
AU  - Serranti D
AU  - Arikan C
AU  - Polat E
AU  - Debray D
AU  - Lacaille F
AU  - Goncalves C
AU  - Hierro L
AU  - Muñoz Bartolo G
AU  - Mozer-Glassberg Y
AU  - Azaz A
AU  - Brecelj J
AU  - Dezsőfi A
AU  - Calvo PL
AU  - Grabhorn E
AU  - Hartleif S
AU  - van der Woerd WJ
AU  - Kamath BM
AU  - Wang JS
AU  - Li L
AU  - Durmaz Ö
AU  - Kerkar N
AU  - Jørgensen MH
AU  - Fischer R
AU  - Jimenez-Rivera C
AU  - Alam S
AU  - Cananzi M
AU  - Laverdure N
AU  - Ferreira CT
AU  - Guerrero FO
AU  - Wang H
AU  - Sency V
AU  - Kim KM
AU  - Chen HL
AU  - de Carvalho E
AU  - Fabre A
AU  - Bernabeu JQ
AU  - Zellos A
AU  - Alonso EM
AU  - Sokol RJ
AU  - Suchy FJ
AU  - Loomes KM
AU  - McKiernan PJ
AU  - Rosenthal P
AU  - Turmelle Y
AU  - Horslen S
AU  - Schwarz K
AU  - Bezerra JA
AU  - Wang K
AU  - Hansen BE
AU  - Verkade HJ
AU  - NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium
PY  - 2023
JO  - JHEP reports : innovation in hepatology
DO  - 10.1016/j.jhepr.2022.100626
UR  - https://doi.org/10.1016/j.jhepr.2022.100626
ER  -

APA

A, F., DBE, V. W., E, G., RJ, T., I, J., BL, S., E, S., T, G., A, K., E, J., A, S., P, L., P, C., N, R., M, S., D, B., E, N., D, K., G, N., H, A., B, F., JBF, H., D, S., C, A., E, P., D, D., F, L., C, G., L, H., G, M. B., Y, M., A, A., J, B., A, D., PL, C., E, G., S, H., WJ, V. D. W., BM, K., JS, W., L, L., Ö, D., N, K., MH, J., R, F., C, J., S, A., M, C., N, L., CT, F., FO, G., H, W., V, S., KM, K., HL, C., E, D. C., A, F., JQ, B., A, Z., EM, A., RJ, S., FJ, S., KM, L., PJ, M., P, R., Y, T., S, H., K, S., JA, B., K, W., BE, H., HJ, V., & Consortium, N. C. A. P. O. P. A. E. O. B. D. (. (2023). Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.. JHEP reports : innovation in hepatology. https://doi.org/10.1016/j.jhepr.2022.100626

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