Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Human Molecular Genetics

Volumn 24, Issue 8, 2015, Pages 2297-2307

  Menezes, Minal J ^a,b   Guo, Yiran ^c   Zhang, Jianguo ^d,e   Riley, Lisa G ^a,b   Cooper, Sandra T ^a,b   Thorburn, David R ^f,g   Li, Jiankang ^e   Dong, Daoyuan ^h   Li, Zhijun ^h   Glessner, Joseph ^c   Davis, Ryan L ⁱ   Sue, Carolyn M ⁱ   Alexander, Stephen I ^a,b   Arbuckle, Susan ^a   Kirwan, Paul ^k   Keating, Brendan J ^c,j   Xu, Xun ^e   Hakonarson, Hakon ^c,j   Christodoulou, John ^a,b  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d FUDAN UNIVERSITY   (China)

^e BGI SHENZHEN   (China)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h UNIVERSITY OF THE SCIENCES   (United States)

ⁱ ROYAL NORTH SHORE HOSPITAL   (Australia)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k ANZAC Research Institute   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; GENTAMICIN; HYDROCORTISONE; METHIONINE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RIBOSOMAL PROTEIN S7; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOSOME PROTEIN; RNA 12S; TETRACOSACTIDE; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; VALINE; VANCOMYCIN; MRPS7 PROTEIN, HUMAN;

ADRENAL INSUFFICIENCY; AMINO ACID SUBSTITUTION; ANTIBIOTIC THERAPY; ARTICLE; BACTERIAL PERITONITIS; BRAIN PERFUSION; CASE REPORT; CHILD; CHRONIC LIVER DISEASE; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; CONGENITAL SENSORINEURAL DEAFNESS; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROCOCHLEOGRAPHY; ENZYME ACTIVITY; EXOME; FAILURE TO THRIVE; FEMALE; FEVER; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPOGONADISM; INFANT; KIDNEY FAILURE; LABORATORY TEST; LACTIC ACIDEMIA; LIVER; LIVER FAILURE; LOW DRUG DOSE; MYRINGOTOMY; NEUROIMAGING; NEUROLOGIC EXAMINATION; PANCYTOPENIA; PATHOGENICITY; PERCEPTION DEAFNESS; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; RISK FACTOR; SIBLING; SMALL RIBOSOMAL SUBUNIT; WILD TYPE; ADOLESCENT; DISEASE COURSE; GENETICS; HEARING LOSS, SENSORINEURAL; LACTIC ACIDOSIS; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ACIDOSIS, LACTIC; ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; LIVER FAILURE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BIOSYNTHESIS; RENAL INSUFFICIENCY; RIBOSOMAL PROTEINS;

EID: 84926473253     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu747     Document Type: Article

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