✦ LIBER ✦

PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS

✍ Scribed by Old, J.M; Purvis-Smith, S; Wilcken, B; Pearson, P; Williamson, R; Briand, P.L; Howard, NevilleJ; Hammond, J; Cathelineau, L; Davies, K.E

Book ID: 124144772
Publisher: The Lancet
Year: 1985
Tongue: English
Weight: 430 KB
Volume: 325
Category: Article
ISSN: 0140-6736
DOI: 10.1016/S0140-6736(85)91966-X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal exclusion of ornithine transcar

Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis

✍ S. Liechti; C. Dionisi Vici; C. Bachmann; M. R. M. Mazziotta; A. Bartuli; G. Sab 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 466 KB

Detection and exclusion of carriers of o

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

✍ M. Schwartz; Ernst Christensen; Niels C. Christensen; Flemming Skovby; Kay E. Da 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB

Prenatal diagnosis of ornithine transcar

Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood

✍ A. Watanabe; Akihiko Sekizawa; Atsushi Taguchi; Hiroshi Saito; Takumi Yanaihara; 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 83 KB

Correction of ornithine transcarbamylase

Correction of ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introduction of rat OTC gene

✍ Tokihiko Shimada; Takashi Noda; Masaaki Tashiro; Takashi Murakami; Masaki Takigu 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 221 KB

Prenatal monitoring of ornithine transca

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis

✍ T. Matsuura; R. Hoshide; M. Fukushima; T. Sakiyama; M. Owada; I. Matsuda 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 1016 KB

H intragenic polymorphisms and haplotype

H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency

✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragen