A new mutation of the fukutin gene in a non-Japanese patient

Annals of Neurology

Volumn 53, Issue 3, 2003, Pages 392-396

  Silan, Fatma ^a   Yoshioka, Mieko ^b   Kobayashi, Kazuhiro ^c   Simsek, Enver ^a   Tunc, Murat ^a   Alper, Murat ^a   Cam, Meryem ^a   Guven, Aysel ^a   Fukuda, Yoji ^d   Kinoshita, Moritoshi ^d   Kocabay, Kenan ^a   Toda, Tatsushi ^c  

^a ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

^b Kobe City Pediatric and General Rehabilitation Center for the Challenged   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d OTSUKA PHARMACEUTICAL CO LTD   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FUKUTIN;

AGYRIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EXON; EYE MALFORMATION; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; JAPAN; MALE; MUSCULAR DYSTROPHY; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TURKEY (REPUBLIC); WALKER WARBURG SYNDROME;

AMINO ACID SEQUENCE; FEMALE; HUMANS; INFANT; JAPAN; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION; PROTEINS;

EID: 0037371206     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10491     Document Type: Article

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