TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 4, 2014, Pages 1461-1466

  Ochiai, Hiroshi ^a   Miyamoto, Tatsuo ^a   Kanai, Akinori ^a   Hosoba, Kosuke ^a   Sakuma, Tetsushi ^a   Kudo, Yoshiki ^b   Asami, Keiko ^c   Ogawa, Atsushi ^c   Watanabe, Akihiro ^c   Kajii, Tadashi ^d   Yamamoto, Takashi ^a   Matsuura, Shinya ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c NIIGATA CANCER CENTER HOSPITAL   (Japan)

^d NONE   (Japan)

Author keywords

Genome editing; Spindle assembly checkpoint

Indexed keywords

NUCLEASE; TRANSCRIPTION ACTIVATOR LIKE EFFECTOR NUCLEASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BUB1B GENE; CASE REPORT; CELL CLONE; GENE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INFANT; JAPANESE; MALE; MOLECULAR PATHOLOGY; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; PREMATURE CHROMATID SEPARATION SYNDROME; PRIORITY JOURNAL; TRANSCRIPTION INITIATION SITE;

GENOME EDITING; SPINDLE ASSEMBLY CHECKPOINT;

ANIMALS; BASE PAIRING; FEMALE; HUMANS; MALE; MICE; MICE, KNOCKOUT; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; SYNDROME;

EID: 84893396021     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1317008111     Document Type: Article

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