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People with Fragile X syndrome--the most common inherited type of mental retardation--lack a protein called FMR1 because the gene for FMR1 is laden with extra DNA.
We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans.
T14577C mutation in ND6 was also implicated as the pathogenic mutation for maternally inherited type 2 diabetes [46].
The hypothesis of a common mechanism in dyskinesia, however, was not supported by the finding that primary torsion dystonia (inherited type DYT1) was not associated with any abnormal binding of the non-selective antagonist opioid [C]DPN compared to healthy controls (Whone et al., 2004).
Inherited type 2 LQTS (LQT2) and drug-induced LQTS both result from altered function of the hERG channel.
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This reclassification allows separation of the inherited types of dentine defects from Dentinogenesis imperfecta, with which they are often confused.
The proposal would allow these researchers to make T cells with the ability to attack three inherited types of cancer.
The proposal would allow these researchers to make T cells with the ability to attack three inherited types of cancer.
These features differentiate FHHNC from other inherited types of renal hypomagnesaemia (Table 1).
The highest occurrence of methylation has been observed in GI cancers involving both sporadic and inherited types [ 58].
The autosomal recessively inherited types include: (i) early onset Nonaka myopathy (MIM 605820), which starts with onset in the distal legs.
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