Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and A
Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
✍ Scribed by Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine Devillers; Gérald Luc; Michel Krempf; Yves Reznik; Jean-Philippe Girardet; Alexandre Fredenrich; Claudine Junien; Mathilde Varret; Catherine Boileau; Pascale Benlian; Jean-Pierre Rabès
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 18 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
The original article to which this Erratum refers was published in Human Mutation 26: 497 (2005) In Table 2, the first footnote that reads "*Associated with p.D347Y on the same allele." should read "*Associated with p.D347Y." as it is not known if the two mutations are in cis or in trans.
📜 SIMILAR VOLUMES
Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2
## Communicated by Mark H. Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Cze
## Abstract Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, aro