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# proj.
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# Ann.
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updated_at |
| PubMed |
9554743 |
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transpo |
762 Bytes |
2015-11-27 |
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27 |
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3 |
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| PubMed |
9563950 |
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.
Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene. One model of DM path |
875 Bytes |
2015-03-12 |
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23 |
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7 |
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| PubMed |
9580132 |
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.
Familial neuro |
1.23 KB |
2015-11-27 |
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28 |
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5 |
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| PubMed |
9585583 |
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of cr |
1.41 KB |
2015-11-27 |
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26 |
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4 |
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| PubMed |
9585605 |
Mutation analysis of UBE3A in Angelman syndrome patients.
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting |
1.17 KB |
2015-11-27 |
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25 |
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7 |
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| PubMed |
9585606 |
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.
Hemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron ove |
1.63 KB |
2015-12-05 |
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24 |
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4 |
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| PubMed |
9585611 |
Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of f |
1.61 KB |
2015-11-27 |
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25 |
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14 |
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| PubMed |
9590178 |
Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.
Products of steroidogenic factor 1 (SF-1) and Wilms' tumor 1 (WT1) genes are essential for mammalian |
922 Bytes |
2015-11-28 |
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36 |
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3 |
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| PubMed |
9590284 |
A mouse model for Prader-Willi syndrome imprinting-centre mutations.
Imprinting in the 15q11-q13 region involves an 'imprinting centre' (IC), mapping in part to the promoter and first exon of SNRPN. D |
1.04 KB |
2015-11-28 |
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25 |
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7 |
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| PubMed |
9600235 |
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
The ATM (A-T, mutated) gene on human chromos |
1.53 KB |
2015-11-27 |
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25 |
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5 |
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