✦ LIBER ✦

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

✍ Scribed by Catherine Bonaïti-Pellié; Anna Pelet; Hélène Ogier; Jean-René Nelson; Claude Largillière; Jacques Berthelot; Jean-Marie Saudubray; Arnold Munnich

Publisher: Springer
Year: 1990
Tongue: English
Weight: 329 KB
Volume: 84
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00208933

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Carrier detection in ornithine transcarb

Carrier detection in ornithine transcarbamylase deficiency

✍ E. A. Haan; D. M. Danks; A. Grimes; N. J. Hoogenraad 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 363 KB

Lethal ornithine transcarbamylase defici

Lethal ornithine transcarbamylase deficiency in a female neonate

✍ N. Girgis; V. McGravey; B. L. Shah; J. Herrin; V. E. Shih 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 169 KB

A novel missense mutation in exon 8 of t

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

✍ Akira Hata; Toshinobu Matsuura; Chiaki Setoyama; Kazuniro Shimada; Tohru Yokoi; 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 698 KB

Proportions of spontaneous mutations in

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

✍ Tuchman, Mendel ;Matsuda, Ichiro ;Munnich, Arnold ;Malcolm, Sue ;Strautnieks, Sa 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 1 views

Ten novel mutations of the ornithine tra

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

✍ Dr. Mitsunobu Shimadzu; Hiroshi Matsumoto; Toshinobu Matsuura; Keiko Kobayashi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 262 KB 👁 1 views

The ornithine transcarbamylase (OTC) gen

The ornithine transcarbamylase (OTC) gene: Mutations in 50 Japanese families with OTC deficiency

✍ Matsuda, Ichiro; Tanase, Sumio 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male pat