𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

✍ Scribed by J. A. Arranz; E. Riudor; C. Marco-Marín; V. Rubio

Publisher
Springer
Year
2007
Tongue
English
Weight
386 KB
Volume
30
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of seven novel missense m
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency
✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve

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

Prenatal monitoring in a family at high
Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: A new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity
✍ Hoshide, Ryuuji; Matsuura, Toshinobu; Sagara, Yusuke; Kubo, Takahiko; Shimadzu, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 562 KB

DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th