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Although there are a few documented observations of high frequency of albinism among Native Americans, including the Hopi, Zuni, Kuna, Jemez, Laguna, San Juan, and Navajo, no causative molecular defect has been previously reported.
Results are contradictory and since no underlying molecular defect has been identified, all suggestions remain inconclusive [43].
The molecular defect has a bearing on outcome, with B− SCID patients having an overall worse outcome than B+ forms of SCID [ 42].
Currently, no molecular defect has been determined to be responsible for IgM deficiency, and IVIG may be instituted in cases of recurrent, debilitating, or life-threatening infection, and/or in patients with concomitant functional IgG deficiencies [ 36].
The infant-onset mitochondrial myopathies have a severe clinical presentation, although it is important to be aware of a subset of patients with infantile cytochrome c oxidase (COX -deficiency myopathy with reversible disease, whose moleCOX -deficiencys recently been described (10, 11).
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Since this case, other affected dogs with the same molecular defect have been diagnosed sporadically until recently.
The sample sizes were too small to evaluate statistically whether the molecular defect had an effect on mortality (Table 1).
The underlying molecular defect had little effect on the need for a booster transplant, with the exception of RAG1 and RAG2-deficiency, where 6 of 7 transplanted SCIDs required booster transplants.
In humans, analyses of genotype and phenotype correlation among AS patients with different classes of molecular defects have been reported [18], [19].
Although cleavage arrest coincides with the maternal-embryonic transition during which maternal transcripts are degraded and the embryonic genome is activated [35], gene expression analyses of arrested single human embryos did not show failure in embryonic genome activation, and no specific molecular defects have been identified [8], [11].
In a small subset of patients, however, specific molecular defects have been identified.
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