Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Seri, M

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. [electronic resource] - Nature genetics Sep 2000 - 103-5 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1061-4036

10.1038/79063 doi


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