Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  van Meel, Eline ^a   Wegner, Daniel J ^a   Cliften, Paul ^a   Willing, Marcia C ^a   White, Frances V ^a   Kornfeld, Stuart ^a   Cole, F S ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aminoacylation; Loss of function mutations; Methionyl tRNA synthetase

Indexed keywords

METHIONINE; METHIONINE TRANSFER RNA LIGASE;

ALPHA HELIX; AMINOACYLATION; ARTICLE; CASE REPORT; ESCHERICHIA COLI; EXOME; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; RECESSIVE INHERITANCE; TOTAL PARENTERAL NUTRITION;

ADULT; AMINO ACID SEQUENCE; BONE MARROW; BRAIN; EXONS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LIVER DISEASES; MAGNETIC RESONANCE IMAGING; METHIONINE; METHIONINE-TRNA LIGASE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 84885002410     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-106     Document Type: Article

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