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is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH(2)-terminal re

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and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 individuals from nine unrelated

only one strain was toxigenic and this strain produced a single toxin, .  et al. 0

namely verotoxin 2.;2000-03;04/08/2025 08:04;04/08/2025 08:04;;217-222;;3;30;;Lett Appl Microbiol;;;;;;;;eng;;;;;;;Place: England PMID: 10747254

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whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans., .  et al. 0

a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

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a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction.;17/02/2006;07/03/2016 15:19;07/03/2016 15:19;;776-783;;3;340;;Biochem. Biophys. Res. Commun.;;;;;;;;eng;;;;;PubMed;;PMID: 16380085

2.5% South Carolinian male college students, .  et al. 0

5% Italian male controls and 4.5% of the white South African controls. None of the black South African non-fragile X individuals with mental retardation

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Adeline; Espanet