Parental mosaicism of JAG1 mutations in families with Alagille syndrome

European Journal of Human Genetics

Volumn 9, Issue 3, 2001, Pages 209-216

  Giannakudis, Joannis ^a   Röpke, Albrecht ^a   Kujat, Annegret ^a   Krajewska Walasek, Malgorzata ^b   Hughes, Helen ^c   Fryns, Jean Pierre ^d   Bankier, Agnes ^e   Amor, David ^e   Schlicker, Mike ^a   Hansmann, Ingo ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Alagille syndrome; Chromosome 20; JAG1 mutation; Mild phenotype; Mosaicism

Indexed keywords

ADENINE; COMPLEMENTARY DNA; CYTOSINE; DNA; GUANINE; MEMBRANE PROTEIN; NUCLEOTIDE; THYMINE;

ALAGILLE SYNDROME; ARTICLE; CHROMOSOME 20; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; MALE; MOSAICISM; NUCLEIC ACID BASE SUBSTITUTION; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROGENY; RECURRENCE RISK;

ALAGILLE SYNDROME; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; DNA PRIMERS; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MOSAICISM; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS;

EID: 0035084091     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200613     Document Type: Article

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