Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for notch1

Nature Genetics

Volumn 16, Issue 3, 1997, Pages 243-251

  Li, Linheng ^a,d   Krantz, Ian D ^a   Deng, Yu ^b,d   Genin, Anna ^a   Banta, Amy B ^a,d   Collins, Colin C ^b   Qi, Ming ^c   Trask, Barbara J ^d   Kuo, Wen Lin ^e   Cochran, Joanne ^b   Costa, Teresa ^f   Pierpont, Mary Ella M ^g   Rand, Elizabeth B ^h   Piccoli, David A ^h   Hood, Leroy ^a,d   Spinner, Nancy B ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c FUDAN UNIVERSITY   (China)

^d LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIGAND; MEMBRANE RECEPTOR;

ALAGILLE SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 20P; CONGENITAL HEART MALFORMATION; EYE MALFORMATION; FACE MALFORMATION; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CLONING, MOLECULAR; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, NOTCH1; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

INVERTEBRATA; VERTEBRATA;

EID: 0038875342     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0797-243     Document Type: Article

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