Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma

Pediatrics International

Volumn 55, Issue 1, 2013, Pages 107-111

  Sakurai, Naoto ^a   Iwamoto, Shotaro ^a   Miura, Yoshihiro ^a   Nakamura, Tomoki ^a   Matsumine, Akihiko ^a   Nishioka, Junji ^b   Nakatani, Kaname ^b   Komada, Yoshihiro ^a  

^a MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MIE UNIVERSITY HOSPITAL   (Japan)

Author keywords

Li Fraumeni syndrome; Li Fraumeni like syndrome; osteosarcoma; p53; splicing site mutation

Indexed keywords

CISPLATIN; DOXORUBICIN; GADOLINIUM; GENOMIC DNA; IFOSFAMIDE; METHOTREXATE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CANCER ADJUVANT THERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER REGRESSION; CASE REPORT; CONTRAST ENHANCEMENT; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; JOINT BIOPSY; JOINT SURGERY; JOINT SWELLING; KNEE PAIN; KNEE PROSTHESIS; KNEE RADIOGRAPHY; LABORATORY TEST; LI FRAUMENI LIKE SYNDROME; LIMB SALVAGE; MULTIPLE CYCLE TREATMENT; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA; OVARIECTOMY; OVARY TERATOMA; OVARY TORSION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPLICING DEFECT; TUMOR SUPPRESSOR GENE; WHOLE BODY CT; WILD TYPE;

ADOLESCENT; BONE NEOPLASMS; FEMALE; GENES, P53; GENETIC MARKERS; HUMANS; LI-FRAUMENI SYNDROME; MUTATION; OSTEOSARCOMA; RNA SPLICE SITES; TIBIA;

EID: 84874039449     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2012.03641.x     Document Type: Article

References (10)

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