"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene" - 23/11/24
Doi : 10.1016/j.clinre.2024.102494
Sandra Ribeiro Correia a, ⁎ 
, Tiago Pereira Guedes a, b, f, Jorge Diogo Da Silva c, d, e, f, g, Nataliya Tkachenko c, f, Isabel Pedroto a, b
, Tiago Pereira Guedes a, b, f, Jorge Diogo Da Silva c, d, e, f, g, Nataliya Tkachenko c, f, Isabel Pedroto a, b a Departament of Gastroenterology, Unidade Local de Saúde de Santo António, Largo do Prof. Abel Salazar, Porto 4099-001, Portugal
b School of Medicine and Biomedical Sciences, University of Porto, Portugal
c Centro de Genética Médica Doutor Jacinto Magalhães, Unidade Local de Saúde de Santo António, Porto, Center for Medical Genetics, Porto, Portugal
d School of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Braga, Portugal
e ICVS/3 B's – PT Government Associate Laboratory, Braga, Portugal
f Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal
g Genetyca-ICM, Atrys, Porto, Portugal
⁎Corresponding author.
Keywords : Progressive familial intrahepatic cholestasis type 3, Low phospholipid-associated cholestasis and cholelithiasis syndrome, ABCB4 gene
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| Cover Letter., Sandra Ribeiro Correia, Gastroenterology Department Unidade Local de Saúde de Santo António, Porto, Portugal, Largo do Prof. Abel Salazar, 4099–001 Porto, Portugal Tel. +351 917,120,230 |
© 2024
Publié par Elsevier Masson SAS.
Vol 49 - N° 1
Article 102494- janvier 2025 Retour au numéro
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