Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia

Journal of Human Genetics

Volumn 58, Issue 4, 2013, Pages 226-228

  Sambuughin, Nyamkhishig ^a   Liu, Xinyue ^b   Bijarnia, Sunita ^c   Wallace, Tarina ^a   Verma, Ishwar C ^c   Hamilton, Susan ^d   Muldoon, Sheila ^a   Tallon, Luke J ^b   Wang, Shuishu ^a  

^a UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c SIR GANGA RAM HOSPITAL   (India)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Exome sequencing; Fatal infantile cardio encephalomyopathy; Malignant hyperthermia; Recessive mutation; Synthesis of cytochrome C oxidase 2

Indexed keywords

CYTOCHROME C OXIDASE; PEPTIDES AND PROTEINS; PRO233THR PROTEIN; RYANODINE RECEPTOR 1; SYNTHESIS OF CYTOCHROME C OXIDASE 2 PROTEIN; THIOREDOXIN; UNCLASSIFIED DRUG; VAL160ALA PROTEIN;

ARTICLE; CYTOCHROME C OXIDASE DEFICIENCY; ENCEPHALOMYOPATHY; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HYPERTHERMIA; INFANTILE HYPERTHERMIA; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; PROTEIN SYNTHESIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CYTOCHROME-C OXIDASE DEFICIENCY; EXOME; FAMILY; FEVER; HUMANS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 84877064328     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.156     Document Type: Article

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