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Volumn 100, Issue 3-4, 1997, Pages 378-381

Progressive familial intrahepatic cholestasis [PFIC): Evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 18Q; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILIAL DISEASE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; INTRAHEPATIC CHOLESTASIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SWEDEN;

EID: 0030930297     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050519     Document Type: Article
Times cited : (33)

References (18)
  • 1
    • 0014865043 scopus 로고
    • Lymphoedema in hereditary recurrent cholestasis from birth
    • Aagenaes O, Sigstad H, Björn-Hansen R (1970) Lymphoedema in hereditary recurrent cholestasis from birth. Arch Dis Child 45:690-695
    • (1970) Arch Dis Child , vol.45 , pp. 690-695
    • Aagenaes, O.1    Sigstad, H.2    Björn-Hansen, R.3
  • 2
    • 0016439420 scopus 로고
    • Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur
    • Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pediatr 86:63-71
    • (1975) J Pediatr , vol.86 , pp. 63-71
    • Alagille, D.1    Odievre, M.2    Gautier, M.3    Dommergues, J.P.4
  • 4
    • 0029038668 scopus 로고
    • Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
    • Carlton VE, Knisely AS, Freimer NB (1995) Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 4:1049-1053
    • (1995) Hum Mol Genet , vol.4 , pp. 1049-1053
    • Carlton, V.E.1    Knisely, A.S.2    Freimer, N.B.3
  • 5
    • 0014442684 scopus 로고
    • Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
    • Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969) Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 117:112-124
    • (1969) Am J Dis Child , vol.117 , pp. 112-124
    • Clayton, R.J.1    Iber, F.L.2    Ruebner, B.H.3    McKusick, V.A.4
  • 10
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 12
    • 0028281060 scopus 로고
    • Abnormal bile acids in the Smith-Lemli-Opitz syndrome
    • Natowicz MR, Evans JE (1994) Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50:364-367
    • (1994) Am J Med Genet , vol.50 , pp. 364-367
    • Natowicz, M.R.1    Evans, J.E.2
  • 14
    • 0023175199 scopus 로고
    • Familial intrahepatic cholestatic syndromes
    • Riely CA (1987) Familial intrahepatic cholestatic syndromes. Semin Liver Dis 7:119-133
    • (1987) Semin Liver Dis , vol.7 , pp. 119-133
    • Riely, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.