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
β¦ LIBER β¦
Compound heterozygosity for a nonsense mutations and an exon deletion in the lysyl hydroxylase gene of a patient with ehlers danlos syndrome type VI
β Scribed by H.N. Yeowell; L.C. Walker; M.N. Yeowell; S.R. Pinnell
- Book ID
- 117640442
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 105 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0945-053X
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