Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Family History and Adherence to Ideal Cardiovascular Health: Counteracting Impacts on the Onset Age of Type 2 Diabetes and Subsequent Cardiovascular Disease Risk. [PDF]
Zhang L +20 more
europepmc +1 more source
Second Primary Lung Cancer Associated With Family History of Lung Cancer. [PDF]
Zitricky F +5 more
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The prevalence of primary lung cancer among women with previous personal and/or family history of cancer in an integrated health system. [PDF]
Villanueva CA +5 more
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Breast Ultrasound Texture Features of Family History of Breast Cancer and Contraceptive Use in Nigerian Younger Women. [PDF]
Erim AE +7 more
europepmc +1 more source
Association of cytokine levels with treatment duration and patient family history in Egyptian multiple sclerosis patients. [PDF]
Mohsen E +4 more
europepmc +1 more source
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