DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. [electronic resource]
Producer: 20150529Description: 612-22 p. digitalISSN:- 1537-6605
- Adaptor Proteins, Signal Transducing -- genetics
- Amino Acid Sequence
- Base Sequence
- Craniofacial Abnormalities -- genetics
- DNA Primers -- genetics
- Dishevelled Proteins
- Dwarfism -- genetics
- Exome -- genetics
- Exons -- genetics
- Frameshift Mutation -- genetics
- Gene Components
- Humans
- Limb Deformities, Congenital -- genetics
- Molecular Sequence Data
- Phosphoproteins -- genetics
- Sequence Analysis, DNA
- Urogenital Abnormalities -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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