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Biancalana, V. et al. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
FSHD1 and FSHD2 may have an additive effect: patients harboring D4Z4 contraction and SMCHD1 mutations display a more severe clinical phenotype than with either defect alone.
At least 30% of DBA patients respond to steroid treatment and patients carrying RPS19 mutations display a poorer response [5].
Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.
Humans surviving with ATR mutations display a condition called Seckel syndrome, the phenol-type of which includes growth retardation and micro-cephaly [ 21].
The mutations display a non-random distribution, clustering within the helical domain (exon 9, commonly E542 and E545) and the kinase domain (exon 20, commonly H1047).
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Accordingly, HAMP knockout animals and humans carrying hepcidin mutations display an excessive parenchymal iron overload while animals over-expressing HAMP suffer from iron-deficiency anemia [3] [5].
Both sets of mutations display an excess of transitional substitutions, a common phenomenon in vertebrate genomes.
Furthermore, some heterozygous carriers of COL17A1 and LAMA3 mutations display an AI phenotype, though it is not common.
The silent/missense mutations displayed a more heterogenous mutational spectra.
Double pop2-4 ssadh-3 mutants homozygous for both mutations displayed a pop2 phenotype.
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