Cholestasis, Progressive Familial Intrahepatic 4
What's New
Last Posted: Jul 14, 2015
- Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu Guorui, et al. Molecular medicine reports 2014 9 (3) 1264-74 - Cholestasis, progressive familial intrahepatic 4
From NCATS Genetic and Rare Diseases Information Center - ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R, et al. Gut 2005 6 (6) 829-34
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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