The molecular genetics of familial intrahepatic cholestasis.
作者信息
Jansen P L, Müller M
机构信息
Department of Gastrointestinal and Liver Disease and Digestive Disease Research Centre, University Hospital Groningen, Groningen, The Netherlands.
出版信息
Gut. 2000 Jul;47(1):1-5. doi: 10.1136/gut.47.1.1.
Abstract
摘要
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本文引用的文献
1
Benign recurrent intrahepatic "obstructive" jaundice.
Lancet. 1959 Oct 31;2(7105):686-90. doi: 10.1016/s0140-6736(59)92128-2.
2
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
Gastroenterology. 1999 Dec;117(6):1370-9. doi: 10.1016/s0016-5085(99)70287-8.
3
The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration.
Genomics. 1999 Sep 1;60(2):234-7. doi: 10.1006/geno.1999.5896.
4
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.
Gastroenterology. 1999 Sep;117(3):653-60. doi: 10.1016/s0016-5085(99)70459-2.
5
Sensorineural hearing loss associated with Byler disease.
Tohoku J Exp Med. 1999 Jan;187(1):83-8. doi: 10.1620/tjem.187.83.
6
Genetic basis of progressive familial intrahepatic cholestasis.
J Hepatol. 1999 Aug;31(2):377-81. doi: 10.1016/s0168-8278(99)80240-2.
7
Lipid translocation across the plasma membrane of mammalian cells.
Biochim Biophys Acta. 1999 Aug 18;1439(3):317-30. doi: 10.1016/s1388-1981(99)00110-9.
8
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905.
9
Transport of monoglucuronosyl and bisglucuronosyl bilirubin by recombinant human and rat multidrug resistance protein 2.
Hepatology. 1999 Aug;30(2):485-90. doi: 10.1002/hep.510300220.
10
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Vision Res. 1999 Jul;39(15):2537-44. doi: 10.1016/s0042-6989(99)00037-1.
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