Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]
Hum GenomicsXia Y, Ma Y.
europepmc +1 more source
Impact of an Intensive Lipid-Lowering Therapy Protocol on Achieving Target Low-Density Lipoprotein Cholesterol Levels in Patients With Acute Coronary Syndrome. [PDF]
Circ RepSeiyama K +8 more
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Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]
Front GenetLi J +7 more
europepmc +1 more source
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]
Glob Med GenetMathur P +5 more
europepmc +1 more source
Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]
BMJ Case RepBenn KW, Bhalala OG, Day TJ, French CR.
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An analysis of dysferlin mutations in Japanese patients with Miyoshi myopathy
, 2001 openaire +1 more source
Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathyopenaire
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Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy
Clinical Neurology and Neurosurgery, 2006Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening.The pedigree was diagnosed accurately by using two ...
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