A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Nature Genetics

Volumn 11, Issue 3, 1995, Pages 335-337

  Bussaglia, Elena ^a   Clermont, Olivier ^b   Tizzano, Eduardo ^a   Lefebvre, Suzie ^b   Bürglen, Lydie ^b   Cruaud, Corinne ^c   Urtizberea, Jon Andoni ^d   Colomer, Jaume ^e   Munnich, Arnold ^b   Baiget, Montserrat ^a   Melki, Judith ^b  

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

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c GÉNÉTHON   (France)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 5Q; CONTROLLED STUDY; EXON; FAMILY STUDY; FRAMESHIFT MUTATION; GENE CONVERSION; GENE DELETION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY; STOP CODON;

BASE SEQUENCE; FRAMESHIFT MUTATION; GENE CONVERSION; HUMAN; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SPAIN; SUPPORT, NON-U.S. GOV'T;

EID: 0028842926     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1195-335     Document Type: Article

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