Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Yue, Jingyin ^a   Lu, Huimei ^a   Lan, Shijie ^a   Liu, Jingmei ^a   Stein, Mark N ^a   Haffty, Bruce G ^a   Shen, Zhiyuan ^a  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA;

ADULT; ARTICLE; CASE REPORT; DNA END JOINING REPAIR; DNA LIGASE IV GENE; DNA REPAIR; DNA STRAND BREAKAGE; DUBOWITZ SYNDROME; FEMALE; G1 PHASE CELL CYCLE CHECKPOINT; G2 PHASE CELL CYCLE CHECKPOINT; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; MUTATOR GENE; PATIENT IDENTIFICATION; RADIOSENSITIVITY; SIGNAL TRANSDUCTION;

ADULT; ANTINEOPLASTIC AGENTS; DNA BREAKS, DOUBLE-STRANDED; DNA DAMAGE; DNA LIGASES; DNA REPAIR; ECZEMA; FACIES; FATAL OUTCOME; FEMALE; FIBROBLASTS; GAMMA RAYS; GROWTH DISORDERS; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; MUTATION; RADIATION TOLERANCE;

EID: 84872865986     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0054389     Document Type: Article

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