✦ LIBER ✦

A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene

✍ Scribed by Makoto Nagano; Mayumi Ito; Yukiko Sagehashi; Hiroaki Hattori; Tohru Egashira

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 14 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)14:3<271::aid-humu16>3.0.co;2-k

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation Ile538Val in t

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

✍ G Grigelioniené; L Hagenäs; O Eklöf; L Neumeyer; PE Haereid; M Anvret 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 1 views

Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hy

A novel missense mutation (L198R) in the

A novel missense mutation (L198R) in the Friedreich's ataxia gene

✍ Sahar Al-Mahdawi; Mark Pook; Susan Chamberlain 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

A novel missense mutation, S1159F, in ex

A novel missense mutation, S1159F, in exon 19 of the CFTR gene

✍ Hans Hermann Seydewitz; Marcus Mall; Joachim Kuehr 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

A novel missense mutation Thr316Ala in l

A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population

✍ Makoto Nagano; Tadao Iwasaki; Hiroaki Hattori; Tohru Egashira 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

Assessment of cholesteryl ester transfer

Assessment of cholesteryl ester transfer protein function in lipoprotein mixtures by 1H NMR spectroscopy

✍ A. Korhonen; M. Ala-korpela; M. J. Liinamaa; J. Jokisaari; Y. A. Kesäniemi; M. J 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 1 views

Studies of cholesteryl ester transfer protein (CETP) function in lipoprotein mixtures pose many difficulties by conventional biochemical methods. For instance, studies on the effects of CETP on the composition of apolipoprotein B containing lipoproteins (very low and low density lipoproteins) in lip

A novel missense mutation, R70W, in the

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

✍ A.M. Brown; S.M. Willi; G. Argyropoulos; W.T. Garvey 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

To follow nomenclature guide. Arg70Trp ## Nucleotide change-Systematic name: Sequential no. in genomic or cDNAsequence. e.g., c1227c->T c.208C>T ## Amino acid change-Trivial name: Codon number and change. e.g., R108W