Whole exome sequencing of suspected mitochondrial patients in clinical practice

Journal of Inherited Metabolic Disease

Volumn 38, Issue 3, 2015, Pages 437-443

  Wortmann, Saskia B ^a   Koolen, David A ^a   Smeitink, Jan A ^a   van den Heuvel, Lambert ^a   Rodenburg, Richard J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CHILD; DNA SEQUENCE; EXOME; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; INFANT; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRION; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84940009155     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9823-y     Document Type: Article

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