A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Human Mutation

Volumn 32, Issue 9, 2011, Pages 989-994

  Vezain, Myriam ^a   Gérard, Bénédicte ^b   Drunat, Séverine ^b   Funalot, Benoît ^c   Fehrenbach, Séverine ^d   N'Guyen Viet, Virginie ^d   Vallat, Jean Michel ^c   Frébourg, Thierry ^a,d   Tosi, Mario ^a   Martins, Alexandra ^a   Saugier Veber, Pascale ^a,d  

^a INSERM   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c LIMOGES UNIVERSITY HOSPITAL   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

Acceptor splice site; HnRNP A1; SMA; SMN1 and SMN2; SMN1 exon 7 splicing

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ADULT; AGED; ALLELE; ARTICLE; BINDING AFFINITY; BINDING SITE; CASE REPORT; EXON; GENE MUTATION; GENOTYPE; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

ADULT; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; EXONS; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; RNA SPLICING; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 80051706048     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21528     Document Type: Article

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