LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. [electronic resource]
Producer: 20050518Description: 1118-21 p. digitalISSN:- 1526-632X
- Adolescent
- Biopsy
- Brain -- pathology
- Child
- Chromosomes, Human, Pair 6 -- genetics
- Exons -- genetics
- Female
- Genes, Recessive
- Homozygote
- Humans
- Intellectual Disability -- genetics
- Laminin -- analysis
- Magnetic Resonance Imaging
- Muscle, Skeletal -- chemistry
- Muscular Dystrophies -- congenital
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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