Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): A further possibility for distinguishing the two copies of the gene

Human Genetics

Volumn 98, Issue 1, 1996, Pages 122-123

  Hahnen, Eric T ^a   Wirth, Brunhilde ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CODON; CONTROLLED STUDY; EXON; GENETIC VARIABILITY; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MOTONEURON; POINT MUTATION; PRIORITY JOURNAL; SILENT GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA PRIMERS; EXONS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS;

EID: 0029944982     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050172     Document Type: Article

References (6)

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2. Cobben JM, Steege G van der, Grootscholten P, Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron (SMN) gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805-808
3. Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Zerres K, Wirth B (1995) Molecular analysis of SMA candidate genes (SMN and NA1P) in autosomal recessive spinal muscular atrophy on 5q13: evidence of homozygous deletions in the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927-1933
4. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal F, Cohen D, Weissenbach J, Munnich A, Melki J (1995) Identification and characterisation of the spinal muscular atrophy determining gene. Cell 80: 155-165
5. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4: 631-634
6. Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AHM (1995) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association with marker genotype to disease severity and candidate cDNAs. Hum Mol Genet 4: 1273-1284