Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Nature Genetics

Volumn 16, Issue 3, 1997, Pages 235-242

  Oda, Takaya ^a   Elkahloun, Abdel G ^a,d   Pike, Brian L ^a   Okajima, Kazuki ^b   Krantz, Ian D ^c   Genin, Anna ^c   Piccoli, David A ^c   Meltzer, Paul S ^a   Spinner, Nancy B ^c   Collins, Francis S ^a   Chandrasekharappa, Settara C ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

^c Childrens Hospital of Philadelphia   (United States)

^d Research Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; GENE PRODUCT;

ALAGILLE SYNDROME; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 20P; CONGENITAL HEART MALFORMATION; EYE MALFORMATION; FACE MALFORMATION; GENE MUTATION; HUMAN; HUMAN CELL; INTRAHEPATIC CHOLESTASIS; PRIORITY JOURNAL; VERTEBRA MALFORMATION;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MEMBRANE PROTEINS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, NOTCH1; RECEPTORS, CELL SURFACE; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0030914459     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0797-235     Document Type: Article

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