De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. [electronic resource]
Producer: 20170406Description: 451-5 p. digitalISSN:- 1435-232X
- Alleles
- Child, Preschool
- Developmental Disabilities -- diagnosis
- Female
- Genotype
- Heterozygote
- Humans
- Infant
- Intellectual Disability -- diagnosis
- Ion Channels
- Male
- Membrane Proteins
- Models, Molecular
- Muscle Hypotonia -- diagnosis
- Mutation, Missense
- Phenotype
- Protein Conformation
- Sequence Analysis, DNA
- Sodium Channels -- chemistry
- Syndrome
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Publication Type: Journal Article
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