Jagged-1 mutation analysis in Italian Alagille syndrome patients

Human Mutation

Volumn 14, Issue 5, 1999, Pages 394-400

  Pilia, Giuseppe ^a,b,k   Uda, Manuela ^b   Macis, Dolores ^b   Frau, Fulvia ^b   Crisponi, Laura ^b   Balli, Fiorella ^c   Barbera, Cristiana ^d   Colombo, Carla ^e   Frediani, Tullio ^f   Gatti, Rosanna ^g   Iorio, Raffaele ^h   Marazzi, M Grazia ^g   Marcellini, Matilde ⁱ   Musumeci, Salvatore ^j   Nebbia, Gabriella ^e   Vajro, Pietro ^h   Ruffa, Giuseppe ^g   Zancan, Lucia ^a   Cao, Antonio ^a,b   De Virgilis, Stefano ^b  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j UNIVERSITY OF CATANIA   (Italy)

^k Osp Regionale per le Microcitemie   (Italy)

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Author keywords

AGS; Alagille syndrome; Genotype phenotype; JAG1; Jagged 1

Indexed keywords

MESSENGER RNA;

ALAGILLE SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; FRAMESHIFT MUTATION; GENOTYPE; HUMAN; ITALY; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ALAGILLE SYNDROME; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CHILD; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENOTYPE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; ITALY; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE DELETION;

EID: 0032706856     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1     Document Type: Article

References (15)

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