ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Journal of Medical Genetics

Volumn 52, Issue 3, 2015, Pages 186-194

  Al Hassnan, Zuhair N ^a,b   Al Dosary, Mazhor ^a   Alfadhel, Majid ^c   Faqeih, Eissa A ^d   Alsagob, Maysoon ^a   Kenana, Rosan ^a   Almass, Rawan ^a   Al Harazi, Olfat S ^a   Al Hindi, Hindi ^a   Malibari, Omhani I ^e   Almutari, Faten B ^a   Tulbah, Sahar ^a   Alhadeq, Faten ^a   Al Sheddi, Tarfa ^a   Alamro, Rana ^a   AlAsmari, Ali ^d   Almuntashri, Makki ^c   Alshaalan, Hesham ^c   Al Mohanna, Futwan A ^a,b   Colak, Dilek ^a   Kaya, Namik ^a   more..

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d KING FAHAD MEDICAL CITY   (Saudi Arabia)

^e Section of Medical Genetics Children's Hospital King Fahad Medical City ^*  (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

IBA57 PROTEIN; IRON SULFUR PROTEIN; ISCA1 PROTEIN; ISCA2 PROTEIN; MITOCHONDRIAL DNA; N ACETYLASPARTIC ACID; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

AMINO ACID URINE LEVEL; ARTICLE; AUTOZYGOSITY MAPPING; CHILD; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONSANGUINITY; DEGENERATIVE DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; EXOME; FATTY ACID BLOOD LEVEL; FEMALE; FIBROBLAST; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HAPLOTYPE MAP; HISTOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KARYOTYPING; LEUKODYSTROPHY; MALE; MICROSATELLITE HAPLOTYPING; MISSENSE MUTATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; TANDEM MASS SPECTROMETRY; TRANSMISSION ELECTRON MICROSCOPY; ABNORMALITIES; ADULT; ALEXANDER DISEASE; GENETICS; INFANT; METABOLISM; MIDDLE AGED; PATHOPHYSIOLOGY; PEDIGREE; WHITE MATTER;

ADULT; ALEXANDER DISEASE; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; EXOME; FEMALE; HUMANS; INFANT; IRON-SULFUR PROTEINS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; PEDIGREE; SEQUENCE ANALYSIS, DNA; WHITE MATTER;

EID: 84930625038     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102592     Document Type: Article

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