๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

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

โœ Scribed by Tuchman, Mendel ;Matsuda, Ichiro ;Munnich, Arnold ;Malcolm, Sue ;Strautnieks, Sandra ;Briede, Trevor


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
469 KB
Volume
55
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


The ornithine transcarbamylase (OTC) gen
โœ Matsuda, Ichiro; Tanase, Sumio ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 46 KB ๐Ÿ‘ 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

Familial lethal inheritance of a mutated
โœ Komaki, Satoru; Matsuura, Toshinobu; Oyanagi, Kazuhiko; Hoshide, Ryuuji; Kiwaki, ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 173 KB ๐Ÿ‘ 2 views

A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). Her two elder sisters died in childhood of hyperammonemia, and the patient also died of OTC deficiency. Enzyme activity in Cos1 cells transfected by the mut

Clinical and biochemical heterogeneity i
โœ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 395 KB ๐Ÿ‘ 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo

Lymphocyte mRNA analysis of the ornithin
โœ Massimo Giorgi; Amelia Morrone; M. Alice Donati; Federica Ciani; Tiziana Bardell ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 69 KB ๐Ÿ‘ 2 views

A new simple, non-invasive method using ornithine transcarbamylase (OTC) mRNA isolated from peripheral blood (PBL) or lymphoblastoid cell lines has been performed. This approach based on reverse transcription and nested PCR to obtain a double strand PBL OTC cDNA allowed the identification of genetic