Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography

Genetic Testing

Volumn 11, Issue 3, 2007, Pages 216-227

  Samejima, Hazuki ^a   Torii, Chiharu ^a   Kosaki, Rika ^b   Kurosawa, Kenji ^c   Yoshihashi, Hiroshi ^c   Muroya, Koji ^c   Okamoto, Nobuhiko ^d   Watanabe, Yoriko ^e   Kosho, Tomoki ^f   Kubota, Michiru ^g   Matsuda, Osamu ^h   Goto, Miwa ^a   Izumi, Kosuke ^a   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY   (Japan)

^b National Children Medical Center   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g HOKKAIDO UNIVERSITY   (Japan)

^h EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

JAGGED1; NOTCH2 RECEPTOR;

ADULT; ALAGILLE SYNDROME; AMPLICON; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FAMILY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; HUMAN; INFANT; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SCREENING;

ALAGILLE SYNDROME; ALLELES; CALCIUM-BINDING PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC SCREENING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTAGENESIS, SITE-DIRECTED; MUTATION; RECEPTOR, NOTCH2;

EID: 35349021526     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0519     Document Type: Article

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