TY  - GEN
AU  - Seri,M
AU  - Cusano,R
AU  - Gangarossa,S
AU  - Caridi,G
AU  - Bordo,D
AU  - Lo Nigro,C
AU  - Ghiggeri,G M
AU  - Ravazzolo,R
AU  - Savino,M
AU  - Del Vecchio,M
AU  - d'Apolito,M
AU  - Iolascon,A
AU  - Zelante,L L
AU  - Savoia,A
AU  - Balduini,C L
AU  - Noris,P
AU  - Magrini,U
AU  - Belletti,S
AU  - Heath,K E
AU  - Babcock,M
AU  - Glucksman,M J
AU  - Aliprandis,E
AU  - Bizzaro,N
AU  - Desnick,R J
AU  - Martignetti,J A
TI  - Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium
SN  - 1061-4036
PY  - 2000///1030
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Blood Platelet Disorders
KW  - genetics
KW  - Cataract
KW  - Chickens
KW  - Chromosomes, Human, Pair 22
KW  - Crystallography, X-Ray
KW  - Cytoplasm
KW  - metabolism
KW  - Genotype
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Leukocytes
KW  - pathology
KW  - Models, Molecular
KW  - Molecular Motor Proteins
KW  - Molecular Sequence Data
KW  - Muscle, Smooth
KW  - Mutation
KW  - Mutation, Missense
KW  - Myosin Heavy Chains
KW  - chemistry
KW  - Myosins
KW  - Nephritis
KW  - Neutrophils
KW  - Phenotype
KW  - Protein Conformation
KW  - Protein Structure, Tertiary
KW  - Sequence Homology, Amino Acid
KW  - Syndrome
KW  - Thrombocytopenia
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/79063
ER  -