The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Nature Genetics

Volumn 29, Issue 1, 2001, Pages 83-87

  Eisenberg, Iris ^a   Avidan, Nili ^b   Potikha, Tamara ^a   Hochner, Hagit ^a   Chen, Miriam ^b   Olender, Tsviya ^b   Barash, Mark ^a   Shemesh, Moshe ^a   Sadeh, Menachem ^c   Grabov Nardini, Gil ^a   Shmilevich, Inna ^a   Friedmann, Adam ^a   Karpati, George ^d   Bradley, Walter G ^e   Baumbach, Lisa ^e   Lancet, Doron ^b   Asher, Edna Ben ^b   Beckmann, Jacques S ^b   Argov, Zohar ^a   Mitrani Rosenbaum, Stella ^a  

^a HEBREW UNIVERSITY   (Israel)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; N ACETYLMANNOSAMINE KINASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 2 EPIMERASE;

ARTICLE; CHROMOSOME 13; CHROMOSOME 9P; CONTROLLED STUDY; ETHNIC DIFFERENCE; FAMILY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INCLUSION BODY MYOSITIS; LEG MUSCLE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE WEAKNESS; NEUROMUSCULAR DISEASE; ONSET AGE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARBOHYDRATE EPIMERASES; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOSITIS, INCLUSION BODY; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEQUENCE HOMOLOGY, AMINO ACID;

EID: 17944366749     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng718     Document Type: Article

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