Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule

Thromb Haemost. 2013 Sep;110(3):618-20. doi: 10.1160/TH13-02-0175. Epub 2013 Aug 8.

Authors

P Gresele¹, D De Rocco, L Bury, T Fierro, A M Mezzasoma, A Pecci, A Savoia

Affiliation

¹ 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.

PMID: 23925420
DOI: 10.1160/TH13-02-0175

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Child
Genotype
Humans
Male
Molecular Motor Proteins / genetics*
Molecular Sequence Data
Mutation
Myosin Heavy Chains / genetics*
Pedigree
Phenotype
Phylogeny
Sequence Analysis, DNA
Thrombocytopenia

Substances

MYH9 protein, human
Molecular Motor Proteins
Myosin Heavy Chains