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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20; 68(8):578-82.
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PubMed
subject areas
Adult
Chromosome Aberrations
Chromosomes, Human, Pair 4
DNA Mutational Analysis
Female
Gene Deletion
Gene Dosage
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Male
Muscle Weakness
Muscle, Skeletal
Muscular Dystrophy, Facioscapulohumeral
Mutation
Pedigree
Phenotype
authors with profiles
Kristen L. Deak