Prenatal prediction of spinal muscular atrophy experience with linkage studies and consequences of present SMN deletion analysis

European Journal of Human Genetics

Volumn 4, Issue 4, 1996, Pages 231-236

  Cobben, J M ^a  

^a Department of Medical Genetics ^*  (Netherlands)

Author keywords

Chromosome 5; Prenatal diagnosis; SMN deletion; Spinal muscular atrophy

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 5Q; EXON; FETUS; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

CHROMOSOMES, HUMAN, PAIR 5; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; FETAL DISEASES; HUMANS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; NETHERLANDS; PREGNANCY; PRENATAL DIAGNOSIS; RNA-BINDING PROTEINS; SEQUENCE DELETION;

EID: 0029816578     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472204     Document Type: Article

References (2)

1. Emery AE: The nosology of spinal muscular atrophies. J Med Genet 1971;8:481-495.
2. Dubowitz V: Muscle disorders in childhood. Philadelphia, Saunders, 1978:146-178.