GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. [electronic resource]
Producer: 19970404Description: 266-8 p. digitalISSN:- 1061-4036
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- DNA-Binding Proteins -- genetics
- Female
- Frameshift Mutation
- Hamartoma -- genetics
- Humans
- Hypothalamic Diseases -- genetics
- Infant, Newborn
- Kruppel-Like Transcription Factors
- Male
- Molecular Sequence Data
- Nerve Tissue Proteins
- Pedigree
- Polydactyly -- genetics
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Repressor Proteins
- Syndrome
- Transcription Factors -- genetics
- Xenopus Proteins
- Zinc Finger Protein Gli3
- Zinc Fingers
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Publication Type: Journal Article
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