New insights into the generation and role of de novo mutations in health and disease

Genome Biology

Volumn 17, Issue 1, 2016, Pages

  Acuna Hidalgo, Rocio ^a   Veltman, Joris A ^b,c   Hoischen, Alexander ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH6; REACTIVE OXYGEN METABOLITE;

AMYOTROPHIC LATERAL SCLEROSIS; AUTISM; BIPOLAR DISORDER; CANCER SUSCEPTIBILITY; CLOVES SYNDROME; COHORT ANALYSIS; CONGENITAL BLOOD VESSEL MALFORMATION; COPY NUMBER VARIATION; DE NOVO MUTATION; DNA REPAIR; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; EPILEPSY; EXCISION REPAIR; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIATION; GERMLINE MUTATION; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MISMATCH REPAIR; MLH1 GENE; MLH2 GENE; MSH6 GENE; MULTIPLE CANCER; NONHUMAN; PARKINSON DISEASE; PMS2 GENE; POLYMERIZATION; PRIMORDIAL GERM CELL; REVIEW; SCHIZOPHRENIA; SETD1A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE VARIANT; SOMATIC MUTATION; STURGE WEBER SYNDROME; TESTIS; TUMOR SUPPRESSOR GENE; DNA SEQUENCE; EXOME; GAMETOGENESIS; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; PATHOLOGY;

AUTISM SPECTRUM DISORDER; EXOME; GAMETOGENESIS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84999816209     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-016-1110-1     Document Type: Review

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