Volume 1; Issue 2

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Human Mutation
Volume 1; Issue 2

Human Mutation

Volume 1; Issue 2

1

Masthead

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 87 KB

english, 1992

2

The unstable and methylatable mutations causing the fragile X syndrome

François Rousseau, Dominique Heitz, Jean-Louis Mandel

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 527 KB

english, 1992

3

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

H.-H. M. Dahl, G. K. Brown, R. M. Brown, L. L. Hansen, D. S. Kerr, I. D. Wexler, M. S. Patel, L. de Meirleir, W. Lissens, K. Chun, N. MacKay, B. H. Robinson

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 456 KB

english, 1992

4

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

Hamish S. Scott, Tom Litjens, John J. Hopwood, C. Phillip Morris

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 612 KB

english, 1992

5

Prevalence of cystic fibrosis mutations in the East German population

Charles Coutelle, Roland Brückner, Klaus Grade, Frauke Behrens, Jürgen Gedschold, Jutta Hein, Reinhard Szibor, Ingrid Bauer, Joseph Brock, Ina Graupner, Udo Urner, Barbara Leucht

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 381 KB

english, 1992

6

Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β-synthase deficiency

Viktor Kožich, Jan P. Kraus

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 972 KB

english, 1992

7

A novel β-globin structural mutant, Hb Brescia (β114 Leu-Pro), causing a severe β-thalassemia intermedia phenotype

S. Murru, D. Poddie, G. V. Sciarratta, S. Agosti, M. Baffico, C. Melevendi, M. Pirastu, A. Cao

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 393 KB

english, 1992

8

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

Elisabeth Sevensson, Randy C. Eisensmith, Bernd Dworniczak, Ulrika von Döbeln, Lars Hagenfeldt, Jürgen Horst, Savio L. C. Woo

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 794 KB

english, 1992

9

Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

Bernd Dworniczak, Luba Kalaydjieva, Sabine Pankoke, Christa Aulehla-Scholz, Gregory Allen, Jürgen Horst

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 839 KB

english, 1992

10

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

Simon W. M. John, Charles R. Scriver, Rachel Laframboise, Rima Rozen

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 635 KB

english, 1992

11

Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria

Susan J. Ramus, Susan M. Forrest, Richard G. H. Cotton

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 465 KB

english, 1992

12

Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations

Toni R. Prezant, Nathan Fischel-Ghodsian

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 525 KB

english, 1992

13

Missense variation of the CFTR gene codon 507

Katrin Will, Manfred Stuhrmann, Helmut Ellemunter, Nikola Hoffknecht, Jörg Schmidtke

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 95 KB

english, 1992

14

Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 251 KB

english, 1992

15

A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin

G. Loudianos, S. Murru, M. S. Ristaldi, P. Cossu, G. Pilia, S. Porcu, G. V. Sciarratta, M. I. Parodi, A. Cao, M. Pirastu

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 240 KB

english, 1992

16

Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

Xiuyuan Hu, Dennis E. Bulman, Peter N. Ray, Ronald G. Worton

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 203 KB

english, 1992