✦ LIBER ✦

Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population

✍ Scribed by D. Chevalier; D. Allorge; J.M. Lo-Guidice; C. Cauffiez; M. Lhermitte; J.J. Lafitte; F. Broly

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 17 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.48

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Five novel natural allelic variants—951A

Five novel natural allelic variants—951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)—of the human CYP1A2 gene in a French Caucasian population

✍ D. Chevalier; C. Cauffiez; D. Allorge; J.M. Lo-Guidice; M. Lhermitte; J.J. Lafit 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

Five novel natural allelic variants -951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y) -of the human CYP1A2 gene in a French Caucasian population

Identification of two novel mutations [P

Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics

✍ William L. Gitomer; Berenice Y. Reed; Charles Y.C. Pak 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

Two novel missense mutations of the OCTN

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

✍ E. Mayatepek; J. Nezu; I. Tamai; A. Oku; M. Katsura; M. Shimane; A. Tsuji 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye´s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R

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