LAMP2 Microdeletions in Patients With Danon Disease

Circulation: Cardiovascular Genetics

Volumn 3, Issue 2, 2010, Pages 129-137

  Vatta, Matteo ^a,e   Yang, Zhao ^a   Funke, Birgit H ^b   Cripe, Linda H ^c   Vick III, G Wesley ^a   Mancini Dinardo, Debora ^b   Peña, Liana S ^a   Kanter, Ronald J ^d   Wong, Brenda ^f   Westerfield, Brandy H ^a   Varela, Jaquelin J ^a   Fan, Yuxin ^a   Towbin, Jeffrey A ^c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f NONE

Author keywords

(TA)n simple repeat; Alu; Cardiomyopathy; Danon; HCM; Hypertrophy; LAMP2

Indexed keywords

GENOMIC DNA; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

5' UNTRANSLATED REGION; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME XQ; CLINICAL FEATURE; DANON DISEASE; EXON; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOCYTE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; WESTERN BLOTTING;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, X; ELECTROCARDIOGRAPHY; EXONS; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; SEQUENCE DELETION;

EID: 77953658930     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.901785     Document Type: Article

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