Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Human mutation

Volumn 25, Issue 3, 2005, Pages 321-

  Jurkiewicz, Dorota ^a   Popowska, Ewa ^a   Gläser, Christiane ^a   Hansmann, Ingo ^a   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; MEMBRANE PROTEIN; SERRATE PROTEINS; SIGNAL PEPTIDE;

ALAGILLE SYNDROME; ARTICLE; CHEMISTRY; FEMALE; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLAND; POLYMERASE CHAIN REACTION; PROTEIN TERTIARY STRUCTURE; RNA SPLICING; STOP CODON;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; POINT MUTATION; POLAND; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES;

EID: 33646356109     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9313     Document Type: Article

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