𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular basis of several rare variants and genomuc organisation of the human C3 gene

✍ Scribed by Anette Frank; Beate Stradmann-Bellinghausen; Peter M. Schneider; Christian Rittner; Thomas Höhler

Book ID
117326512
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
363 KB
Volume
35
Category
Article
ISSN
0161-5890

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Complement component C3: molecular basis
Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants
✍ Thomas Höhler; Marina Botto; Christian Rittner; Peter M. Schneider; Karl-Hermann 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 401 KB

Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism)

Molecular basis of congenital erythropoi
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
✍ Weiming Xu; Kenneth H. Astrin; Robert J. Desnick 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 541 KB

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, uroporphyrinogen 111 synthase (URO-synthase). T o date, 17 mutations have been described including 1

Molecular basis of fabry disease: Mutati
Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
✍ Christine M. Eng; Robert J. Desnick 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 884 KB

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo

Molecular basis of acute intermittent po
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene
✍ Kenneth H. Astrin; Robert J. Desnick 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 900 KB

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre

Molecular basis of hereditary fructose i
Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene
✍ Dean R. Tolan 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 834 KB

Mutations in the human aldolase B gene that result in hereditary fructose intolerance have been characterized extensively. Although the majority of subjects have been from northern Europe, subjects from other geographical regions and ethnic groups have been identified. At present 2 1 mutations have