Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Human Mutation

Volumn 24, Issue 5, 2004, Pages 417-427

  Clermont, Olivier ^a   Burlet, Philippe ^b   Benit, Paule ^b   Chanterau, Dominique ^c   Saugier Veber, Pascale ^d   Munnich, Arnold ^b   Cusin, Veronica ^c,e,f  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f CHU NANCY BRABOIS   (France)

Author keywords

Haplotype; Mutation detection; SMA; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

COMPLEMENTARY DNA; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SPINAL MUSCULAR ATROPHY;

EID: 8144230924     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20092     Document Type: Article

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