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:

Hershfield, Michael S.

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:

Tromp, Gerard;
De Paepe, Anne;
Nuytinck, Lieve;
Madhatheri, Swarna;
Kuivaniemi, Helena

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:

Evgrafov, Oleg Vadimovich;
Polyakov, Alexandr Vladimirovich;
Dzenis, Irina Genrikhovna;
Baharev, Vladimir Anatol'evich

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:

Pérez, Belén;
Desviat, Lourdes R.;
Ugarte, Magdalena

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:

Lu, Jian;
Costa, Teresa;
Cole, William G.

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:

Barbat, Benoit;
Bogyo, Any;
Raux-Demay, Marie-Charles;
Kuttenn, Frédéarique;
Boué, Joelle;
Simon-Bouy, Brigitte;
Serre, Jean-Louis;
Boué, André;
Mornet, Etienne

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:

Özkara, H. A.;
Akerman, B. R.;
Ciliv, G.;
Topçu, M.;
Renda, Y.;
Gravel, R. A.

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:

Eggerding, Faye A.;
Iovannisci, David M.;
Brinson, Eleanor;
Grossman, Paul;
Winn-Deen, Emily S.

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:

Brown, David H.;
Triggs-Raine, Barbara L.;
McGinniss, Matthew J.;
Kaback, Michael M.

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:

McIntosh, Iain;
Abbott, Margaret H.;
Francomano, Clair A.

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:

Ivaschenko, T.;
Bakay, M.;
Baranov, V.

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:

Cama, Alessandro;
Palmirotta, Raffaele;
Curia, Maria Cristina;
Esposito, Diana L.;
Ranieri, Annalisa;
Ficari, Ferdinando;
Valanzano, Rosa;
Battista, Pasquale;
Modesti, Andrea;
Tonelli, Francesco;
Mariani-Costantini, Renato

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:

Wood, Nigel;
Standen, Graham;
Old, John;
Bidwell, Jeffrey

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:

Fukao, Toshiyuki;
Yamaguchi, Seiji;
Orii, Tadao;
Hashimoto, Takashi

Publication type:

Article

Identification of three different α-thalassemic haplotypes: -α3.7, (- -)MED and αHph α in the same Algerian family.

Published in:

Human Mutation, 1995, v. 5, n. 2, p. 182, doi. 10.1002/humu.1380050214

By:

Leclerc, Tristan;
Guetarni, Djamel;
Bernet, Agnès;
Colonna, Pierre;
Godet, Jacqueline;
Morlé, François

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:

Zlotogora, Joël;
Bach, Gideon;
Böusenberg, Claudia;
Barak, Ygal;
Von Figura, Kurt;
Gieselmann, Volkmar

Publication type:

Article