Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Journal of Human Genetics

Volumn 62, Issue 6, 2017, Pages 647-651

  Sun, Yu ^a   Hu, Guorui ^a   Luo, Jihang ^a   Fang, Di ^a   Yu, Yongguo ^a   Wang, Xiang ^a   Chen, Jing ^a   Qiu, Wenjuan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE TRANSFER RNA LIGASE;

ACIDOSIS; ARTERY DYSPLASIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHINESE; CHOLESTASIS; COUGHING; DEVELOPMENTAL DELAY; DIGITAL CLUBBING; ENZYME ACTIVE SITE; FAILURE TO THRIVE; FEEDING DIFFICULTY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HEART ATRIUM SEPTUM DEFECT; HEPATOMEGALY; HUMAN; HUMAN TISSUE; INFANT; INTERSTITIAL LUNG DISEASE; LACTIC ACIDOSIS; LIVER DISEASE; LIVER DYSFUNCTION; LIVER INJURY; LUNG FIBROSIS; LUNG INFECTION; MALE; MALNUTRITION; MICROCYTIC ANEMIA; NEWBORN ANEMIA; PNEUMONIA; POSTNATAL GROWTH; RESPIRATORY FAILURE; WHOLE EXOME SEQUENCING; ANEMIA; GENETIC ASSOCIATION STUDY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; PATHOPHYSIOLOGY; PEDIGREE;

ABNORMALITIES, MULTIPLE; ANEMIA; CHARCOT-MARIE-TOOTH DISEASE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LIVER DISEASES; LUNG DISEASES, INTERSTITIAL; MALE; METHIONINE-TRNA LIGASE; MUTATION; PEDIGREE;

EID: 85019698190     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2017.10     Document Type: Article

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