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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

✍ Scribed by Kunsang Gyato; J. Wray; Z. J. Huang; M. Yudkoff; Mark L. Batshaw


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
84 KB
Volume
55
Category
Article
ISSN
0364-5134

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A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient w