Reviewing large LAMA2 deletions and duplications in congenital muscular dystrophy patients

Journal of Neuromuscular Diseases

Volumn 1, Issue 2, 2014, Pages 169-179

  Oliveira, Jorge ^a,d   Gonçalves, Ana ^a,d   Oliveira, Márcia E ^a,d   Fineza, Isabel ^b   Pavanello, Rita C M ^c   Vainzof, Mariz ^c   Bronze da Rocha, Elsa ^d   Santos, Rosário ^a,d   Sousa, Mário ^d  

^a UP   (Portugal)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF PORTO   (Portugal)

Author keywords

Congenital muscular dystrophy; LAMA2; Large deletion; Large duplication; Review

Indexed keywords

COMPLEMENTARY DNA; LAMININ ALPHA2;

ADULT; ALLELE; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DNA HYBRIDIZATION; EXON; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INTRON; LAMA2 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SOUTHERN BLOTTING; SYSTEMATIC REVIEW; YOUNG ADULT;

EID: 84932625659     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140031     Document Type: Article

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