Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

Human Mutation

Volumn 16, Issue 5, 2000, Pages 408-416

  Heritage, Mandy L ^a   MacMillan, John C ^b   Colliton, Raymond P ^c   Genin, Anna ^c   Spinner, Nancy B ^c   Anderson, Gregory J ^a,d  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

AGS; Alagille syndrome; JAG1; Jagged1; Mutation detection; Protein truncation

Indexed keywords

GENE PRODUCT; JAGGED1; UNCLASSIFIED DRUG;

ALAGILLE SYNDROME; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; EXON; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RNA TRANSLATION;

ALAGILLE SYNDROME; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; AUSTRALIA; CALCIUM-BINDING PROTEINS; CELL LINE, TRANSFORMED; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE; POPULATION SURVEILLANCE; PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0033736117     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9     Document Type: Article

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