𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12

✍ Scribed by Valère Cacheux; Pavel Martasek; Françoise Fougerousse; Marie Hélène Delfau; Luc Druart; Gerard Tachdjian; Bernard Grandchamp


Publisher
Springer
Year
1994
Tongue
English
Weight
508 KB
Volume
94
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis


The human gene encoding coproporphyrinogen oxidase is the defective gene in hereditary coproporphyria. This gene was mapped to chromosome band 3q12 using fluorescent in situ hybridization. The chromosomal localization was confirmed by cosegregation of the human gene with chromosome 3 in a panel of human/rodent somatic hybrids.


📜 SIMILAR VOLUMES


Chromosomal localization of the gene for
✍ Daniel A. Robertson; David F. Callen; Elizabeth G. Baker; C. Phillip Morris; Joh 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 505 KB

Glucosamine-6-sulphatase (G6S), a lysosomal enzyme found in all cells, is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of G6S results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilipp

Chromosomal localization of the human gl
✍ Christine Morris; Nora Heisterkamp; John Groffen; Julian C. Williams; Ilkka Mono 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 268 KB

Glycoasparaginase cleaves the N-glycosidic linkage between asparagine and N-acetylglucosamine in the degradation of glycoproteins. In humans, a deficient activity of glycoasparaginase results in accumulation of glycoasparagines, causing the lysosomal storage disease aspartylglycosaminuria. Recombina

Regional localization of human M-BCR gen
✍ Rhea V. Samonte; K. H. Ramesh; Ram S. Verma 📂 Article 📅 1996 🏛 Springer Netherlands 🌐 English ⚖ 150 KB

We hybridized a human M-BCR DNA probe to the chromosomes of chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla) and orangutan (Pongo pygmaeus) by FISH-technique. The human M-BCR gene was localized to chromosome 23 band ql 1 (23ql 1), which is equivalent to the human chromosome 22 band ql 1 in al