Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 2
Results: 17
PEG-ADA: An alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 107, doi. 10.1002/humu.1380050202
- By:
- Publication type:
- Article
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 126, doi. 10.1002/humu.1380050205
- By:
- Publication type:
- Article
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 179, doi. 10.1002/humu.1380050213
- By:
- Publication type:
- Article
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 131, doi. 10.1002/humu.1380050206
- By:
- Publication type:
- Article
Masthead.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. fmi, doi. 10.1002/humu.1380050201
- Publication type:
- Article
A novel G1006A substitution in the α2(I) chain of type I collagen produces osteogenesis imperfecta type III.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 175, doi. 10.1002/humu.1380050212
- By:
- Publication type:
- Article
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 188, doi. 10.1002/humu.1380050217
- By:
- Publication type:
- Article
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 186, doi. 10.1002/humu.1380050216
- By:
- Publication type:
- Article
Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 153, doi. 10.1002/humu.1380050209
- By:
- Publication type:
- Article
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 173, doi. 10.1002/humu.1380050211
- By:
- Publication type:
- Article
Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 121, doi. 10.1002/humu.1380050204
- By:
- Publication type:
- Article
Novel frameshift mutation in exon 4 of CFTR gene.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 184, doi. 10.1002/humu.1380050215
- By:
- Publication type:
- Article
Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 144, doi. 10.1002/humu.1380050208
- By:
- Publication type:
- Article
Optimisation and properties of a UHG for genotyping of hemoglobins S and C.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 166, doi. 10.1002/humu.1380050210
- By:
- Publication type:
- Article
Molecular basis of β-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase gene.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 113, doi. 10.1002/humu.1380050203
- By:
- Publication type:
- Article
Identification of three different α-thalassemic haplotypes: -α<sup>3.7</sup>, (- -)<sup>MED</sup> and α<sup>Hph</sup> α in the same Algerian family.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 182, doi. 10.1002/humu.1380050214
- By:
- Publication type:
- Article
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 137, doi. 10.1002/humu.1380050207
- By:
- Publication type:
- Article