Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [electronic resource]
Producer: 19970117Description: 4081-8 p. digitalISSN:- 0021-972X
- Adrenal Hyperplasia, Congenital -- enzymology
- Base Sequence
- Child
- Child, Preschool
- DNA Primers -- genetics
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- RNA Splicing -- genetics
- Steroid 21-Hydroxylase -- genetics
- Transfection
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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