𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A patient with ehlers danlos syndrome type VI is a compound heterozygote for the lysyl hydroxylase gene

✍ Scribed by Yeowell, Heather N.; Ha, Van; Pinnell, Sheldon R.

Book ID
122992940
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
161 KB
Volume
6
Category
Article
ISSN
0923-1811

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A null-mutated lysyl hydroxylase gene in
A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI
✍ Jari Heikkinen; Birgitta Pousi; Michael Pope; Raili MyllylΓ€ πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 216 KB πŸ‘ 2 views

A British patient with EDS VI had two novel null mutations in the lysyl hydroxylase gene, one nucleotide deletion in the acceptor splice site of intron 4 in one allele, and an insertion of a C nucleotide in exon 2 of the other allele. The abnormal alleles lead to a markedly decreased lysyl hydroxyla

A compound heterozygote patient with Ehl
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene
✍ Birgitta Pousi; Timo Hautala; James C. Hyland; Jukka SchrΓΆter; Beate Eckes; Kari πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 229 KB πŸ‘ 1 views

We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons