Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.
Paolo Gresele, MD, PhD, Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Via E. dal Pozzo, 06126 Perugia, Italy, Tel.: +39 0755783989, Fax: +39 0755716083, E-mail: grespa@unipg.it.
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P
Gresele
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De Rocco
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L
Bury
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Fierro
A M
AM
Mezzasoma
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Pecci
A
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Savoia
D001483:Base Sequence; D002648:Child; D005838:Genotype; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains