✦ LIBER ✦

Identification of a novel mutation (Arg99 → Cys) in the LCAT gene causing Fish Eye Disease in a Spanish family

✍ Scribed by F. Blanco-Vaca; S.-J. Qu; C. Fiol; H.-Z. Fan; A. Marzal-Casacuberta; I. Hurtado; V. Gracia; X. Pinto´; T. Marti´; J.J. Albers; H.J. Pownall

Book ID: 118325472
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 152 KB
Volume: 109
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(94)93801-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel molecular defect in the LCAT gen

A novel molecular defect in the LCAT gene associated with fish eye disease in a Spanish family

✍ Cenarro, A.; Gómez-Coronado, D.; Lasunción, M.A.; Gimeno, J.A.; Bonet, B.; Faure 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 148 KB

Fish Eye Disease and LCAT-deficiency, ex

Fish Eye Disease and LCAT-deficiency, extremes of one phenotype. A novel LCAT-mutation in a large family of Dutch descent

✍ J.A. Kuivenhoven; H. Wiebusch; E. Van Voorst tot Voorst; J.S. Hill; P.H. Pritcha 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 157 KB

Identification of a novel mutation in ex

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families

✍ Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José Gonzàlez-Boni 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 369 KB

Two novel mutations in the LDL receptor

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population

✍ A. Cenarro; H. K. Jensen; F. Civeira; E. Casao; J. Ferrando; J. González-Bonillo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 586 KB

Identification of a Novel Mutation in th

Identification of a Novel Mutation in the Presenilin 1 Gene in a Chinese Alzheimer’s Disease Family

✍ Deng, Bo; Lian, Yan; Wang, Xin; Zeng, Fan; Jiao, Bin; Wang, Ye-Ran; Liang, Chun- 📂 Article 📅 2014 🏛 Springer-Verlag 🌐 English ⚖ 1018 KB

Identification of a novel mutation causi

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene

✍ Annukka Isoniemi; Marja Hietala; Pertti Aula; Anu Jalanko; Leena Peltonen 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 921 KB

Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev