Danon disease: Case report and detection of new mutation

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Regelsberger, G ^a   Hoftberger R ^a   Pickl, W F ^b   Zlabinger, G J ^b   Kormoczi U ^b   Salzer Muhar, U ^c   Luckner, D ^c   Bodamer, O A ^c   Mayr, J A ^d   Muss, W H ^d   Budka, H ^a   Bernheimer, H ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c ST ANNA CHILDREN S HOSPITAL   (Austria)

^d St Johanns Spital   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

LAMP2 PROTEIN, HUMAN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; DANON DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HEART MUSCLE; HEART TRANSPLANTATION; HUMAN; LEUKOCYTE; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE; STOP CODON;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GLYCOGEN STORAGE DISEASE TYPE IIB; HEART TRANSPLANTATION; HUMANS; LEUKOCYTES; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MYOCARDIUM; SEQUENCE DELETION;

EID: 84880996857     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1097-9     Document Type: Article

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