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A recent study reported that a homozygous mutation in B4GALT7 (p.Arg270causedaused a variant of Larsen syndrome in Reunion Island in the southern Indian Ocean and is characterized by multiple dislocations, dwarfism, distinctive facial features, and hyperlaxity [ 28].
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To date, over 200 known KCNH2 mutations have been described causing a variant of long QT syndrome, known as LQT2.
It can also affect human beings causing a variant of Creutzfeldt-Jakob disease (vCJD) [ 10].
A homozygous mutation in B4GALT7 (p.Arg270causesauses a variant of Larsen syndrome in Reunion Island in the southern Indian Ocean, which is called Larsen of Reunion Island syndrome, and is characterized by distinctive facial features, multiple dislocations, dwarfism, and hyperlaxity [ 69].
Mutations in the CLN6 gene, located on chromosome 15q23 (10, 11), cause a variant late infantile form of NCL (vLINCL).
It is most often caused by a variant of the staph infection, but can be caused by other bacteria that spread through the blood.
The earliest recorded FMD case was in 1933 caused by a variant of FMDV type O (Walker 1934), and this has been the only outbreak caused by the type O serotype.
The outbreak had been caused by a variant of the bug known as O157 H7, which secretes a powerful toxin in a victim's body.
Sickle cell disease is caused by a variant of the beta-globin gene called sickle hemoglobin (Hb S).
Molecular analysis showed that the epidemic was caused by a variant of the Central/East African CHIKV genotype (5, 6 ).
Two have different mutations of Phe91 causing a variant childhood-onset severe limb-girdle myopathy.
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