Article

A novel nonsense mutation c.424G>T (p. G142X) in the first exon of XLas leading to osteopetrosis

2018-12-27

Abstract excerpt

GNAS is one of the most complex gene loci in the human genome and encodes multiple gene products. XLas, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gas), is paternally inherited. Although XLas can mimic the action of Gas, its significance remains largely unknown in humans. Here we report a patient presented with increased bone mass, hypophosphatemia, and elevated...

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Literature Corpus work: 79ffbda8-d8b0-5ce7-b5f3-3288695d8318
DOI: 10.1101/507111

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