Significant liver disease in a patient with Y116H mutation in the MVK gene

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1461-1464

  Leyva Vega, Melissa ^a,b   Weiss, Pamela F ^a   Ganesh, Jaya ^a   Conlin, Laura ^a   Spinner, Nancy B ^a   Matthews, Randolph P ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; ASPARTATE AMINOTRANSFERASE; AZATHIOPRINE; GAMMA GLUTAMYLTRANSFERASE; HISTIDINE; IMMUNOGLOBULIN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; NEUTROPHIL CYTOPLASMIC ANTIBODY; PREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SMOOTH MUSCLE ANTIBODY; TYROSINE;

ABDOMINAL DISTENSION; ABSCESS; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANEMIA; ARTHRALGIA; ARTHRITIS; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOIMMUNE HEPATITIS; CASE REPORT; CONJUNCTIVITIS; ERYTHEMA; ERYTHROCYTE SEDIMENTATION RATE; FAMILIAL MEDITERRANEAN FEVER; FEVER; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE; GENE MUTATION; GENETIC SCREENING; HEPATOSPLENOMEGALY; HUMAN; INFANT; INFLAMMATORY INFILTRATE; LETTER; LEUKOCYTOSIS; LIVER BIOPSY; LIVER FIBROSIS; LYMPHADENOPATHY; MALE; MEVALONATE KINASE DEFICIENCY; MUCOCUTANEOUS LYMPH NODE SYNDROME; MVK GENE; NECROTIZING ENTEROCOLITIS; NEWBORN; PRIORITY JOURNAL; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; HEPATITIS; HUMANS; INFANT, NEWBORN; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEQUENCE ANALYSIS, DNA;

EID: 79956214818     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33915     Document Type: Letter

References (7)

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