A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
β Scribed by E. Mercuri; S. C. Brown; P. Nihoyannopoulos; J. Poulton; M. Kinali; P. Richard; R. J. Piercy; S. Messina; C. Sewry; M. M. Burke; W. McKenna; G. Bonne; F. Muntoni
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 282 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Mutations in the MMAA gene on human chromosome 4q31.21 result in vitamin B12-responsive methylmalonic aciduria (cblA complementation group) due to deficiency in the synthesis of adenosylcobalamin. Genomic DNA from 37 cblA patients, diagnosed on the basis of cellular adenosylcobalamin synthesis, meth
The original article to which this Erratum refers was published in Human Mutation 24: 509-516 (2004). In the original article, the running header incorrectly read ''Mutations in the MMMA Gene,'' although it was corrected by the author during the proofing stage. The correct running header should read
A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor