## Communicated by JΓΌrgen Horst on a different RFLP and STR haplotype background than in Spanish non-Gypsies. ## PATIENTS AND METHODS In this study we have examined eight Gypsy PKU families from different communities in Spain. Two of the families are related. Consanguinity among parents has not
β¦ LIBER β¦
Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population
β Scribed by Isabel Rivera; Paula Leandro; Uta Lichter-Konecki; Isabel Tavares de Almeida; Maria Celeste Lechner
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 82 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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We analyzed the data regarding six Japanese ataxia-telangiectasia (A-T) patients from four unrelated families, at the DNA level, to search for possible common mutations in the Japanese population. Among eight mutant alleles in the four families, c. 4612del165 (exon 33 skipping) was identified in two