Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. [electronic resource]
Producer: 20051025Description: 46-50 p. digitalISSN:- 0007-0963
- Adolescent
- Base Sequence
- DNA Mutational Analysis -- methods
- Ectodermal Dysplasia -- genetics
- Edar Receptor
- Facies
- Female
- Genes, Recessive
- Genotype
- Humans
- Hypohidrosis -- genetics
- Male
- Membrane Proteins -- genetics
- Mutation
- Pakistan -- ethnology
- Pedigree
- Phenotype
- Receptors, Ectodysplasin
- Receptors, Tumor Necrosis Factor -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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