Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA

Volumn 312, Issue 1, 2014, Pages 68-77

  Taylor, Robert W ^a   Pyle, Angela ^b   Griffin, Helen ^b   Blakely, Emma L ^a   Duff, Jennifer ^b   He, Langping ^a   Smertenko, Tania ^b   Alston, Charlotte L ^a   Neeve, Vivienne C ^b   Best, Andrew ^b   Yarham, John W ^a   Kirschner, Janbernd ^c   Schara, Ulrike ^d   Talim, Beril ^e   Topaloglu, Haluk ^e   Baric, Ivo ^f   Holinski Feder, Elke ^g   Abicht, Angela ^g   Czermin, Birgit ^g   Kleinle, Stephanie ^g   Morris, Andrew A M ^h   Vassallo, Grace ^h   Gorman, Grainne S ^a   Ramesh, Venkateswaran ⁱ   Turnbull, Douglass M ^a   Santibanez Koref, Mauro ^b   McFarland, Robert ^a,i   Horvath, Rita ^b   Chinnery, Patrick F ^b   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e HACETTEPE UNIVERSITY   (Turkey)

^f KBC Zagreb   (Croatia)

^g Medical Genetic Center   (Germany)

^h MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

ⁱ NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

AARS2 GENE; ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CHILD; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; FLAD1 GENE; GARS GENE; GENE MUTATION; GERMANY; HAPLOTYPE; HEARING IMPAIRMENT; HUMAN; INFANT; KIDNEY DISEASE; LEIGH DISEASE; LIVER FUNCTION; MAJOR CLINICAL STUDY; MALE; MTO1 GENE; MULTIPLE MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX DEFICIENCY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTCD1 GENE; RMND1 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; UNITED KINGDOM; VARS2 GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HAPLOTYPES; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84903618205     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.7184     Document Type: Article

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