Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 5
Results: 16
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 411, doi. 10.1002/humu.1212
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- Article
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
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- Human Mutation, 2001, v. 18, n. 5, p. 451, doi. 10.1002/humu.1216
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- Article
Go!Poly: A gene-oriented polymorphism database.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 382, doi. 10.1002/humu.1209
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- Article
Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform ( STK11 c.597<sup>⁁</sup>598insIVS4).
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- Human Mutation, 2001, v. 18, n. 5, p. 397, doi. 10.1002/humu.1211
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- Article
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
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- Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1222
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- Article
Variability of the CD36 gene in West Africa.
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- Human Mutation, 2001, v. 18, n. 5, p. 444, doi. 10.1002/humu.1215
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- Article
Mutations in BTD causing biotinidase deficiency.
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- Human Mutation, 2001, v. 18, n. 5, p. 375, doi. 10.1002/humu.1208
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- Article
Fabry disease: 20 novel GLA mutations in 35 families.
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- Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1219
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- Article
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
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- Human Mutation, 2001, v. 18, n. 5, p. 388, doi. 10.1002/humu.1210
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- Article
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
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- Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1221
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- Article
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase ( HPRT1) gene associated with Lesch-Nyhan syndrome.
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- Human Mutation, 2001, v. 18, n. 5, p. 435, doi. 10.1002/humu.1214
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- Article
Missense mutations of human homeoboxes: A review.
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- Human Mutation, 2001, v. 18, n. 5, p. 361, doi. 10.1002/humu.1207
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- Article
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
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- Human Mutation, 2001, v. 18, n. 5, p. 458, doi. 10.1002/humu.1218
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- Article
Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.
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- Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1220
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- Article
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.
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- Human Mutation, 2001, v. 18, n. 5, p. 422, doi. 10.1002/humu.1213
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- Publication type:
- Article
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 458, doi. 10.1002/humu.1217
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- Article