Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 1019-1021

  Talbot, Kevin ^a   Rodrigues, Nanda ^a   Bernert, Gunther ^c   Bittner, Reginald ^b   Davies, Kay ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF VIENNA   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Compound heterozygosity; Spinal muscular atrophy (SMA); Survivial motor neurone gene (SMN)

Indexed keywords

DNA MARKER;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DNA FLANKING REGION; FAMILY; FATHER; FEMALE; GENE DELETION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MOTONEURON; NERVE DEGENERATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; SPINAL MUSCULAR ATROPHY;

EID: 16944362621     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.1019     Document Type: Article

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