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adhalin gene
Mutation in severe childhood autosomal recessive muscular dystrophy.
Related
alpha-sarcoglycan; alpha-SG; adhalin; 50 kD dystrophin-associated glycoprotein; 50DAG; dystroglycan-2 (SGCA, ADL, DAG2)
limb-girdle muscular dystrophy type 2D (LGMD2D)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: alpha-sarcoglycan
LOCUS: human chromosome-17 Q12-21.33
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
References
- Roberds SL et al
Missense mutations in the adhalin gene linked to autosomal
recessive muscular dystrophy.
Cell 78:625-33 1994
PMID: 8069911