Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. [electronic resource]
Producer: 20140526Description: 683-92 p. digitalISSN:- 1460-2156
- Adult
- Age of Onset
- Bone Diseases -- etiology
- Cohort Studies
- Cough -- genetics
- Endoplasmic Reticulum -- genetics
- Exome -- genetics
- Female
- Fractures, Bone -- genetics
- GTP Phosphohydrolases -- genetics
- Gastroesophageal Reflux -- genetics
- Genes, Dominant -- genetics
- Haplotypes -- genetics
- Hereditary Sensory and Autonomic Neuropathies -- complications
- Humans
- Intracellular Space -- genetics
- Male
- Mutation
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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