Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)
✍ Scribed by David Ng; Jennifer J. Johnston; Joyce T. Turner; Eilis A. Boudreau; Edythe A. Wiggs; William H. Theodore; Leslie G. Biesecker
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 27 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
In the above noted manuscript, the mutation was erroneously described as c.3385_3386delTT. It should have been described as c.3386_3387delTT. While both designations describe the deletion of two thymidine residues within a string of three thymidines, the mutation nomenclature [den Dunnen and Antonarakis, 2001] specifies that the 3 0 most of a string of repetitive nucleotides should be designated as the deletion. In addition, in the Materials and Methods section the GenBank reference number for GLI3 was erroneously listed as NM_00168. It should have been NM_000168.
The authors regret these errors.
REFERENCE
den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.