The IVS4 + 4A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients

Blood

Volumn 95, Issue 4, 2000, Pages 1493-1498

  Futaki, Makoto ^b   Yamashita, Takayuki ^a   Yagasaki, Hiroshi ^b   Toda, Tatsushi ^b   Yabe, Miharu ^b   Kato, Shunichi ^b   Asano, Shigetaka ^b   Nakahata, Tatsutoshi ^b  

^a UNIVERSITY OF TOKYO   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FANCONI ANEMIA; FEMALE; HUMAN; JAPAN; MALE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ASIAN; CHILD; CONGENITAL MALFORMATION; ETHNOLOGY; EUROPE; EXON; FAMILY; GENE DELETION; GENETICS; HOMOZYGOTE; INTRON; JEW; NUCLEOTIDE SEQUENCE;

CELL CYCLE PROTEIN; DNA BINDING PROTEIN; FANCC PROTEIN, HUMAN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA PROTEIN; NUCLEAR PROTEIN; PROTEIN;

ABNORMALITIES; ADOLESCENT; ADULT; AGE OF ONSET; ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD; DNA-BINDING PROTEINS; EUROPE; EXONS; FAMILY; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; INTRONS; JAPAN; JEWS; MALE; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SEQUENCE DELETION;

EID: 0034651233     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.4.1493.004k35_1493_1498     Document Type: Article

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