Myotilin is mutated in limb girdle muscular dystrophy 1A.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2141, doi. 10.1093/hmg/9.14.2141
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- Publication type:
- Article
Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 14
Results: 16
1
2
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2125, doi. 10.1093/hmg/9.14.2125
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- Publication type:
- Article
3
Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2167, doi. 10.1093/hmg/9.14.2167
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- Publication type:
- Article
4
An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2117, doi. 10.1093/hmg/9.14.2117
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- Publication type:
- Article
5
Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2149, doi. 10.1093/hmg/9.14.2149
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- Publication type:
- Article
6
Mutations in the CNGB3 gene encoding the β -subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3 ) linked to chromosome 8q21.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2107, doi. 10.1093/hmg/9.14.2107
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- Publication type:
- Article
7
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2159, doi. 10.1093/hmg/9.14.2159
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- Publication type:
- Article
8
Identification of a novel protein interacting with RPGR.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2085, doi. 10.1093/hmg/9.14.2085
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- Publication type:
- Article
9
Mariner is defective in myosin VIIA : a zebrafish model for human hereditary deafness.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2189, doi. 10.1093/hmg/9.14.2189
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- Publication type:
- Article
10
Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2067, doi. 10.1093/hmg/9.14.2067
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- Publication type:
- Article
11
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2095, doi. 10.1093/hmg/9.14.2095
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- Publication type:
- Article
12
Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2131, doi. 10.1093/hmg/9.14.2131
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- Publication type:
- Article
13
CREB-binding protein sequestration by expanded polyglutamine.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2197, doi. 10.1093/hmg/9.14.2197
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- Publication type:
- Article
14
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2175, doi. 10.1093/hmg/9.14.2175
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- Publication type:
- Article
15
Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2075, doi. 10.1093/hmg/9.14.2075
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- Publication type:
- Article
16
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2183, doi. 10.1093/hmg/9.14.2183
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- Publication type:
- Article