Rapid screening for japanese dysferlinopathy by fluorescent primer extension

Internal Medicine

Volumn 49, Issue 24, 2010, Pages 2693-2696

  Hayashi, Saori ^a   Ohsawa, Yutaka ^a   Takahashi, Toshiaki ^b   Suzuki, Naoki ^c   Okada, Tadashi ^a   Rikimaru, Mitsue ^a   Murakami, Tatsufumi ^a   Aoki, Masashi ^a   Sunada, Yoshihide ^a  

^a KAWASAKI MEDICAL SCHOOL   (Japan)

^b National Hospital Organization Sendai Nishitaga Hospital   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Dysferlinopathy; Fluorescent primer extension; Limb girdle muscular dystrophy (LGMD) 2B; Miyoshi myopathy (MM); Mutational hot spots

Indexed keywords

DIDEOXYNUCLEOTIDE; DYSFERLIN; GENOMIC DNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHEMICAL LABELING; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ELECTROPHORESIS; EXON; FEMALE; FLUORESCENT PRIMER EXTENSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; JAPANESE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; PROCESS DEVELOPMENT; PROTEIN FUNCTION;

ADOLESCENT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA PRIMERS; FEMALE; FLUORESCENT DYES; GENETIC TESTING; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; TIME FACTORS; YOUNG ADULT;

EID: 78650406001     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.3771     Document Type: Article

References (5)

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