Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  DaRe, Jeana T ^a   Vasta, Valeria ^b   Penn, John ^b   Tran, Nguyen Thao B ^b   Hahn, Si H ^b,c  

^a TRANSGENOMIC INC   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Electron transport chains; Mitochondrial disorder; Next generation sequencing; Respiratory chain complexes; Targeted exome

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; METHYL CPG BINDING PROTEIN 2; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; MULTIENZYME COMPLEX; PANTOTHENATE KINASE 2; SODIUM CHLORIDE COTRANSPORTER;

ABCD1 GENE; ADOLESCENT; ADULT; AGED; ARTICLE; CDKL5 GENE; CHILD; CLINICAL FEATURE; CLN6 GENE; CYSTINURIA; DCX GENE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ETFB GENE; EXOME; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GITELMAN SYNDROME; GLUTARIC ACIDEMIA IIB; HARP SYNDROME; HUMAN; INFANT; LEIGH DISEASE; LIPOFUSCINOSIS; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL COMPLEX I DEFICIENCY; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL DNA DEPLETION SYNDROME 1; MITOCHONDRIAL GENE; MNGIE SYNDROME; MTFMT GENE; NDUFAF5 GENE; NDUFS2 GENE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEOTIDE SEQUENCE; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; OTC GENE; PCK2 GENE; PDHA1 GENE; PHENOTYPE; PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY; PRESCHOOL CHILD; RESPIRATORY CHAIN; SCHOOL CHILD; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLC3A1 GENE; SLC6A8 GENE; SPAST GENE; SPASTIC PARAPLEGIA; TYMP GENE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; EXOME; GENETIC HETEROGENEITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION; QUALITY CONTROL; YOUNG ADULT;

EID: 84887387453     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-118     Document Type: Article

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