Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId

Journal of Inherited Metabolic Disease

Volumn 24, Issue 5, 2001, Pages 535-545

  Sugie, H ^a   Fukuda, T ^a   Ito, M ^a   Sugie, Y ^b   Kojoh, T ^c   Nonaka, I ^d  

^a Hamamatsu City Medical Center for Developmental Medicine   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME; RNA; MESSENGER RNA; PRIMER DNA;

ADULT; ARTICLE; CASE REPORT; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; FATALITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 3; HEART DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MOLECULAR GENETICS; MYOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON; AGAR GEL ELECTROPHORESIS; BIOSYNTHESIS; DISEASE COURSE; ENZYMOLOGY; GENETICS; HEART MUSCLE; LIVER; MUSCLE DISEASE; MUTATION; MYOCARDIAL DISEASE; PATHOLOGY; SKELETAL MUSCLE;

ADULT; CASE REPORT; DISEASE PROGRESSION; DNA PRIMERS; DNA, COMPLEMENTARY; ELECTROPHORESIS, AGAR GEL; EXONS; FATAL OUTCOME; FEMALE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMAN; LIVER; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOCARDIAL DISEASES; MYOCARDIUM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0035152458     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1012459625902     Document Type: Article

References (18)

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