Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Journal of Applied Genetics

Volumn 55, Issue 3, 2014, Pages 329-336

  Jurkiewicz, Dorota ^a   Gliwicz, Dorota ^a   Ciara, Elzbieta ^a   Gerfen, Jennifer ^b   Pelc, Magdalena ^a   Piekutowska Abramczuk, Dorota ^a   Kugaudo, Monika ^a,c   Chrzanowska, Krystyna ^a   Spinner, Nancy B ^b   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Alagille syndrome; Diagnostic strategy; JAG1 gene; JAG1 point mutations; Large deletions

Indexed keywords

ALAGILLE SYNDROME; ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HUMAN; JAG1 GENE; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; COMPARATIVE STUDY; FAMILY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLAND;

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

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; POLAND; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 84904686432     PISSN: 12341983     EISSN: 21903883     Source Type: Journal    
DOI: 10.1007/s13353-014-0212-2     Document Type: Article

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