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"Although half of the mutations that cause Ehlers-Danlos syndrome types I and II are likely to affect the COL5A1 gene, a significant portion of the mutations result in low levels of mRNA from the mutant allele as a consequence of nonsense-mediated mRNA decay." [2] [11] Kyphoscoliotic (type VI) is characterized by generalized joint laxity, skin fragility, and severe muscle hypotonia at birth

Mfn1 and Mfn2 knockout mice did not survive mid-pregnancy [79]

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Natural history of autoimmune achlorhydric atrophic gastritis A 1-15-year follow-up study