✦ LIBER ✦

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3

✍ Scribed by Isabella Giovannoni; Filippo Maria Santorelli; Manila Candusso; Maja Di Rocco; Emanuele Bellacchio; Francesco Callea; Paola Francalanci

Book ID: 119229875
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 722 KB
Volume: 43
Category: Article
ISSN: 1590-8658
DOI: 10.1016/j.dld.2011.03.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

1385 NOVEL HIS1238TYR MUTATION IN A PATI

1385 NOVEL HIS1238TYR MUTATION IN A PATIENT WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

✍ Dzagania, T.; Engelmann, G.; Flechtenmacher, C.; Zangurashvili, L.; Kankia, N.; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 54 KB

Mutations in Bile Salt Export Pump (ABCB

Mutations in Bile Salt Export Pump (ABCB11) in Two Children with Progressive Familial Intrahepatic Cholestasis and Cholangiocarcinoma

✍ A.O. Scheimann; S.S. Strautnieks; A.S. Knisely; J.A. Byrne; R.J. Thompson; M.J. 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 659 KB

Molecular characterization and structura

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)

✍ Degiorgio, Dario; Colombo, Carla; Seia, Manuela; Porcaro, Luigi; Costantino, Luc 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 208 KB

Molecular study of WISP3 in nine familie

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

✍ Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Jud 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB 👁 3 views

## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is