DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients

Journal of Human Genetics

Volumn 55, Issue 5, 2010, Pages 308-313

  Shapiro, Rivka ^a   Anikster, Yair ^b   Yardeni, Tal ^c   Korem, Sigal ^c,f   Hartman, Korina ^a   Shamir, Raanan ^a   Broide, Efrat ^d   Levine, Arie ^e   Bujanover, Yoram ^b   Bercovich, Dani ^c,f  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^d ASSAF HAROFEH MEDICAL CENTER   (Israel)

^e WOLFSON MEDICAL CENTER   (Israel)

^f TEL HAI COLLEGE   (Israel)

Author keywords

ATP8B1; BSEP; MDR3; Mutation analysis; PFIC1; PFIC2; PFIC3

Indexed keywords

BILE ACID;

ARTICLE; ATP8B1 GENE; AUTOSOMAL RECESSIVE DISORDER; BSEP GENE; CHILD; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; ISRAEL; LINKAGE ANALYSIS; MALE; MDR3 GENE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD;

ADENOSINE TRIPHOSPHATASES; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; ISRAEL; MALE; MUTATION; P-GLYCOPROTEINS; PEDIGREE; RETROSPECTIVE STUDIES;

EID: 77952860682     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.28     Document Type: Article

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