Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs

European Journal of Haematology

Volumn 72, Issue 5, 2004, Pages 330-335

  Tamary, Hannah ^a,e   Dgany, Orly ^a   Toledano, Helen ^f   Shalev, Zvi ^a   Krasnov, Tatyana ^a   Shalmon, Lea ^a   Schechter, Tali ^a   Bercovich, Dani ^c   Attias, Dina ^b   Laor, Ruth ^b   Koren, Ariel ^d   Yaniv, Isaac ^f  

^a TEL AVIV UNIVERSITY   (Israel)

^b BNAI ZION MEDICAL CENTER   (Israel)

^c MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^d HAEMEK MEDICAL CENTER   (Israel)

^e SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^f NONE

Author keywords

Exon skipping; Fanconi anemia; Intron retention; Mutation

Indexed keywords

COMPLEMENTARY DNA; DNA;

ARAB; ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; DNA CONFORMATION; DNA DETERMINATION; DNA POLYMORPHISM; DNA STRAND; EXON; FAMILY; FANCONI ANEMIA; GENE DELETION; GENE MUTATION; HUMAN; INTRON; ISRAEL; MOLECULAR BIOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGE OF ONSET; ALU ELEMENTS; ARABS; CHILD; CONSANGUINITY; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; EXONS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP G PROTEIN; FEMALE; GENOTYPE; HUMANS; INTRONS; ISRAEL; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 11144353533     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2004.00240.x     Document Type: Article

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