Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

Human Genetics

Volumn 116, Issue 6, 2005, Pages 445-453

  Boyer, Julie ^a   Crosnier, Cécile ^a,d   Driancourt, Catherine ^a   Raynaud, Nicole ^a   Gonzales, Marie ^b   Hadchouel, Michelle ^a,c   Meunier Rotival, Michèle ^a  

^a INSERM   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c BICÊTRE HOSPITAL   (France)

^d IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; JAGGED1; MESSENGER RNA; MUTANT PROTEIN; NOTCH RECEPTOR; PROTEIN PATCHED; CALCIUM BINDING PROTEIN; MEMBRANE PROTEIN; SERRATE PROTEINS; SIGNAL PEPTIDE;

ALAGILLE SYNDROME; ALLELE; ARTICLE; CLINICAL ARTICLE; CORRELATION ANALYSIS; FETUS; GENE DELETION; GENE EXPRESSION REGULATION; GENE MAPPING; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSCRIPTION; HAPLOIDY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER; LYMPHOBLASTOID CELL LINE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; ANIMAL; CELL LINE; CELL STRAIN COS1; CERCOPITHECUS; GENETIC TRANSFECTION; GENETICS; LYMPHOCYTE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DEVELOPMENT;

ALAGILLE SYNDROME; ALLELES; ANIMALS; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LYMPHOCYTES; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; TRANSFECTION;

EID: 21444452489     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1262-7     Document Type: Article

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