Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 4
Results: 20
Masthead.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. fmi, doi. 10.1002/humu.1380030401
- Publication type:
- Article
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 395, doi. 10.1002/humu.1380030412
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- Publication type:
- Article
Cystic fibrosis patients from the black sea region: The 1677delTA mutation.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 353, doi. 10.1002/humu.1380030405
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- Publication type:
- Article
A single-base deletion mutation in a Turkish patient with fucosidosis.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 407, doi. 10.1002/humu.1380030416
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- Publication type:
- Article
A microtiter plate assay for determining apolipoprotein E genotype and discovery of a rare allele.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 379, doi. 10.1002/humu.1380030409
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- Publication type:
- Article
A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 391, doi. 10.1002/humu.1380030411
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- Publication type:
- Article
Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 347, doi. 10.1002/humu.1380030404
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- Publication type:
- Article
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 402, doi. 10.1002/humu.1380030415
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- Publication type:
- Article
Mutations in Steroid 21-Hydroxylase (CYP21).
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 373, doi. 10.1002/humu.1380030408
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- Publication type:
- Article
A rapid restriction site screening method for the Pro<sup>207</sup>→Leu mutation in the lipoprotein lipase gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 416, doi. 10.1002/humu.1380030419
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- Publication type:
- Article
A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 386, doi. 10.1002/humu.1380030410
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- Publication type:
- Article
APC and p53 mutations in de novo colorectal adenocarcinomas.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 342, doi. 10.1002/humu.1380030403
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- Publication type:
- Article
Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 399, doi. 10.1002/humu.1380030414
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- Publication type:
- Article
New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 365, doi. 10.1002/humu.1380030407
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- Publication type:
- Article
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 411, doi. 10.1002/humu.1380030418
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- Publication type:
- Article
A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 397, doi. 10.1002/humu.1380030413
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- Publication type:
- Article
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 358, doi. 10.1002/humu.1380030406
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- Publication type:
- Article
Announcement.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 418, doi. 10.1002/humu.1380030420
- Publication type:
- Article
The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 339, doi. 10.1002/humu.1380030402
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- Publication type:
- Article
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 409, doi. 10.1002/humu.1380030417
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- Publication type:
- Article