Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT. [electronic resource]
Producer: 20061024Description: 755-9 p. digitalISSN:- 1107-3756
- Amino Acid Sequence
- Basal Cell Nevus Syndrome -- genetics
- Base Sequence
- Child
- Craniopharyngioma -- genetics
- DNA Mutational Analysis
- Exons -- genetics
- Family Health
- Fatal Outcome
- Female
- Hedgehog Proteins
- Humans
- Immunohistochemistry
- Infant
- Loss of Heterozygosity
- Male
- Mutation
- Patched Receptors
- Patched-1 Receptor
- Pedigree
- Pituitary Neoplasms -- genetics
- Receptors, Cell Surface -- analysis
- Receptors, G-Protein-Coupled -- physiology
- Signal Transduction -- genetics
- Smoothened Receptor
- Trans-Activators -- physiology
- Wnt Proteins -- physiology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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