A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

Annals of Neurology

Volumn 52, Issue 4, 2002, Pages 516-519

  Arai, Aki ^a   Tanaka, Keiko ^a   Ikeuchi, Takeshi ^a   Igarashi, Shuichi ^a   Kobayashi, Hisashi ^a   Asaka, Tomoya ^b   Date, Hidetoshi ^a   Saito, Masaaki ^a   Tanaka, Hajime ^a   Kawasaki, Sari ^a   Uyama, Eiichiro ^c   Mizusawa, Hidehiro ^d   Fukuhara, Nobuyoshi ^e   Tsuji, Shoji ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b KANAZAWA UNIVERSITY   (Japan)

^c KUMAMOTO UNIVERSITY   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^e National Saigata Medical Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ALLELISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL INCLUSION; CELL VACUOLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISTAL MYOPATHY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HOMOZYGOTE; HUMAN; JAPAN; LOWER LEG; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE;

CARBOHYDRATE EPIMERASES; FOUNDER EFFECT; HAPLOTYPES; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); VACUOLES;

EID: 0036791916     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10341     Document Type: Article

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