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Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia‐telangiectasia
Author(s) -
Fukao Toshiyuki,
Tashita Hideaki,
Teramoto Takahide,
Inoue Ryosuke,
Kaneko Hideo,
Komiyama Kayo,
BarShira Anat,
Gilad Shlomit,
Shiloh Yosef,
Nishimura Masaaki,
Kondo Naomi
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380110172
Subject(s) - biology , ataxia telangiectasia , genetics , gene , mutation , rna splicing , dna , dna damage , rna