Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? [electronic resource]
Producer: 20030103Description: 249-52 p. digitalISSN:- 1098-1004
- Alanine -- genetics
- Amino Acid Substitution -- genetics
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- Chromosomes, Human, X -- genetics
- CpG Islands -- genetics
- DNA-Binding Proteins -- genetics
- Female
- Genetic Carrier Screening
- Genetic Testing -- trends
- Haplotypes -- genetics
- Humans
- Infant
- Intellectual Disability -- genetics
- Male
- Methyl-CpG-Binding Protein 2
- Mutation -- genetics
- Pedigree
- Repressor Proteins -- genetics
- Rett Syndrome -- genetics
- Valine -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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