Found: 15
Select item for more details and to access through your institution.
Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 83, doi. 10.1002/humu.1380040202
- By:
- Publication type:
- Article
Characterization of a disease-causing Glu<sup>119</sup>-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 102, doi. 10.1002/humu.1380040203
- By:
- Publication type:
- Article
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 114, doi. 10.1002/humu.1380040204
- By:
- Publication type:
- Article
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 119, doi. 10.1002/humu.1380040205
- By:
- Publication type:
- Article
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II).
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 128, doi. 10.1002/humu.1380040206
- By:
- Publication type:
- Article
Rapid and noninvasive screening of patients with mitochondrial myopathy.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 132, doi. 10.1002/humu.1380040207
- By:
- Publication type:
- Article
Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 136, doi. 10.1002/humu.1380040208
- By:
- Publication type:
- Article
Genome scanning detects genetic alterations in human ovarian carcinoma.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 141, doi. 10.1002/humu.1380040209
- By:
- Publication type:
- Article
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 150, doi. 10.1002/humu.1380040210
- By:
- Publication type:
- Article
Molecular characterization of a DDEI melting polymorphism at the angiotensin I-converting enzyme (ACE) locus.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 155, doi. 10.1002/humu.1380040211
- By:
- Publication type:
- Article
A tandem CC → TT transition in the p53 gene of a breast cancer.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 158, doi. 10.1002/humu.1380040212
- By:
- Publication type:
- Article
A novel mutation (G1249R) in exon 20 of the CFTR gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 161, doi. 10.1002/humu.1380040213
- By:
- Publication type:
- Article
Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 163, doi. 10.1002/humu.1380040214
- By:
- Publication type:
- Article
Discussion on mutation nomenclature.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 166, doi. 10.1002/humu.1380040215
- By:
- Publication type:
- Article
Masthead.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. fmi, doi. 10.1002/humu.1380040201
- Publication type:
- Article