Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

Biochemical and Biophysical Research Communications

Volumn 354, Issue 4, 2007, Pages 937-941

  Pereira, Cristina ^a   Nogueira, Celia ^a   Barbot, Clara ^b   Tessa, Alessandra ^c   Soares, Carla ^d   Fattori, Fabiana ^c   Guimarães, António ^e   Santorelli, Filippo M ^c   Vilarinho, Laura ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL MARIA PIA   (Portugal)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d Hospital So Sebastio   (Portugal)

^e HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

mtDNA; Mutation; Transfer RNA

Indexed keywords

ALANINE; CYTOCHROME C OXIDASE; DIHYDROURIDINE; GLYCINE; MITOCHONDRIAL DNA; PYRIMIDINE DERIVATIVE; TRANSFER RNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CHILDHOOD DISEASE; CLINICAL FEATURE; FAMILY HISTORY; GENE MUTATION; GENETIC VARIABILITY; GENOME; HUMAN; HUMAN TISSUE; LEUKOCYTE; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MALE; MITOCHONDRION; MOTHER; MUSCLE BIOPSY; MYOPATHY; PERIPHERAL CIRCULATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN;

EID: 33846817270     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.01.068     Document Type: Article

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