Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis

Neurogenetics

Volumn 9, Issue 3, 2008, Pages 173-182

  Blazquez L ^a   Azpitarte, M ^a   Saenz A ^a   Goicoechea, M ^a,b   Otaegui, D ^a   Ferrer, X ^c   Illa, I ^d   Gutierrez Rivas, E ^e   Vilchez, J J ^f   Lopez De Munain A ^a,b  

^a HOSPITAL DONOSTIA   (Spain)

^b Ilundain Foundation   (Spain)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Alternative splicing; Calpain 3; Diagnosis; LGMD2A; Peripheral blood

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAPN3 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; HUMAN; LEUKOCYTE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; PRIORITY JOURNAL; RNA ANALYSIS; RNA DEGRADATION; SCHOOL CHILD;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CALPAIN; CASE-CONTROL STUDIES; CHILD; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HUMANS; ISOENZYMES; LEUKOCYTES; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; YOUNG ADULT;

EID: 46149103138     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0129-1     Document Type: Article

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