Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Gene

Volumn 519, Issue 1, 2013, Pages 169-172

  Amiñoso, Cinthia ^a   Vallespin, Elena ^a   Fernández, Luís ^a   Arrabal, Luisa F ^b   Desviat, Lourdes R ^c   Pérez, Belen ^c   Santos, Fernando ^a   Solera, Jesús ^a,c  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

CCDC40; Deletion; GAA; MLPA; Pompe disease

Indexed keywords

GENOMIC DNA;

AIRWAY OBSTRUCTION; ALU SEQUENCE; ARTICLE; CASE REPORT; CAUCASIAN; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; GENE; GENE STRUCTURE; GENETIC IDENTIFICATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEPATOMEGALY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INDEL MUTATION; INFANT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WEAKNESS;

ALPHA-GLUCOSIDASES; ALU ELEMENTS; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; MALE; MICROARRAY ANALYSIS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PROTEINS; RESPIRATORY INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 84875382934     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.01.051     Document Type: Article

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