Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients

Identification of a cytogenetic deletion

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency

✍ Consuelo Climent; Miguel Ángel García-Pérez; Pablo Sanjurjo; José-Ignacio Ruiz-S 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 3 views

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