Best practice guidelines for molecular analysis in spinal muscular atrophy

European Journal of Human Genetics

Volumn 9, Issue 7, 2001, Pages 484-491

  Scheffer, Hans ^a   Cobben, Jan Maarten ^b   Matthijs, Gert ^c   Wirth, Brunhilde ^d  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

Guidelines; Molecular analysis; SMA; SMN

Indexed keywords

3' UNTRANSLATED REGION; ADULT; ALLELE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CENTROMERE; CHILD; CHROMOSOME 5Q; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC STABILITY; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INFANT; INTERNET; MOLECULAR GENETICS; MOTONEURON; PHENOTYPE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REVIEW; SEQUENCE HOMOLOGY; SPINAL MUSCULAR ATROPHY; SYMPTOM; TELOMERE;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; HUMANS; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PRACTICE GUIDELINES; RNA-BINDING PROTEINS;

EID: 0034869225     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200667     Document Type: Review

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