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
Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma
β Scribed by Horsthemke, Bernhard ;Brandt, Birgit ;Albrecht, Beate ;Passarge, Eberhard
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 102 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
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