Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 4
Results: 12
A mutation in α -tropomyosin[sub slow] affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 317, doi. 10.1093/hmg/10.4.317
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- Article
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 353, doi. 10.1093/hmg/10.4.353
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- Article
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 405, doi. 10.1093/hmg/10.4.405
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- Article
Large-scale evaluation of imprinting status in the Prader–Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 383, doi. 10.1093/hmg/10.4.383
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- Article
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 339, doi. 10.1093/hmg/10.4.339
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- Article
Evidence that fragile X mental retardation protein is a negative regulator of translation.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 329, doi. 10.1093/hmg/10.4.329
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- Article
Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 423, doi. 10.1093/hmg/10.4.423
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- Article
Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 371, doi. 10.1093/hmg/10.4.371
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- Article
Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 395, doi. 10.1093/hmg/10.4.395
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- Article
Functional analysis of mutations in SLC7A9 , and genotype–phenotype correlation in non-Type I cystinuria.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 305, doi. 10.1093/hmg/10.4.305
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- Article
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 415, doi. 10.1093/hmg/10.4.415
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- Article
Effect of the toxic milk mutation ( tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
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- Human Molecular Genetics, 2001, v. 10, n. 4, p. 361, doi. 10.1093/hmg/10.4.361
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- Article