Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Fukao, Toshiyuki ^a   Tashita, Hideaki ^a   Teramoto, Takahide ^a   Inoue, Ryosuke ^a   Kaneko, Hideo ^a   Komiyama, Kayo ^a   Bar Shira, Anat ^b   Gilad, Shlomit ^b   Shiloh, Yosef ^b   Nishimura, Masaaki ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; GROWTH RETARDATION; HUMAN; JAPAN; POINT MUTATION; PRIORITY JOURNAL; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHEMISTRY; EXON; FAMILY HEALTH; FOLLOW UP; GENE EXPRESSION REGULATION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; RNA SPLICING;

ATM PROTEIN; CELL CYCLE PROTEIN; COMPLEMENTARY DNA; DNA BINDING PROTEIN; PROTEIN; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; EXONS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; HUMANS; JAPAN; MUTAGENESIS, INSERTIONAL; MUTATION; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; RNA SPLICING; TUMOR SUPPRESSOR PROTEINS;

EID: 0031975357     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110172     Document Type: Article

References (12)

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