Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. [electronic resource]
Producer: 20001030Description: 103-5 p. digitalISSN:- 1061-4036
- Alleles
- Amino Acid Sequence
- Animals
- Blood Platelet Disorders -- genetics
- Cataract -- genetics
- Chickens
- Chromosomes, Human, Pair 22
- Crystallography, X-Ray
- Cytoplasm -- metabolism
- Genotype
- Hearing Loss, Sensorineural -- genetics
- Humans
- Leukocytes -- pathology
- Models, Molecular
- Molecular Motor Proteins
- Molecular Sequence Data
- Muscle, Smooth -- metabolism
- Mutation
- Mutation, Missense
- Myosin Heavy Chains -- chemistry
- Myosins -- chemistry
- Nephritis -- genetics
- Neutrophils -- pathology
- Phenotype
- Protein Conformation
- Protein Structure, Tertiary
- Sequence Homology, Amino Acid
- Syndrome
- Thrombocytopenia -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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