Volume 2; Issue 1

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Human Mutation
Volume 2; Issue 1

Human Mutation

Volume 2; Issue 1

1

Masthead

Journal:

Year:

1993

Language:

english

File:

PDF, 97 KB

english, 1993

2

Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene

William S. Oetting, Richard A. King

Journal:

Year:

1993

Language:

english

File:

PDF, 522 KB

english, 1993

3

Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center

Monica D. Traystman, Nancy Schulte, John L. Colombo, Paul H. Sammut, Pam Reilly, Christopher Patel, Diane Acquazzino, Barbara Simanek, Rebecca Anderson, William J. Kimberling, G. Bradley Schaefer, War

Journal:

Year:

1993

Language:

english

File:

PDF, 766 KB

english, 1993

4

Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations

B. Mercier, W. Lissens, M. P. Audrézet, M. Bonduelle, I. Liebaers, C. Ferec

Journal:

Year:

1993

Language:

english

File:

PDF, 449 KB

english, 1993

5

Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta

Daniel H. Cohn, Xiaoming Zhang, Peter H. Byers

Journal:

Year:

1993

Language:

english

File:

PDF, 628 KB

english, 1993

6

Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers–Danlos syndrome type IV

Yuli Wu, Helena Kuivaniemi, Gerard Tromp, Deike Strobel, Anne M. Romanic, Darwin J. Prockop

Journal:

Year:

1993

Language:

english

File:

PDF, 828 KB

english, 1993

7

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

Marian M. Humphries, Denise M. Sheils, Gwyneth J. Farrar, Rajendra Kumar-Singh, Paul F. Kenna, Fiona C. Mansergh, Siobhan A. Jordan, Marjory Young, Peter Humphries

Journal:

Year:

1993

Language:

english

File:

PDF, 564 KB

english, 1993

8

Identification of mutations in Danish choroideremia families

Marianne Schwartz, Thomas Rosenberg, José A. J. M. van den Hurk, Dorien J. R. van den Pol, Frans P. M. Cremers

Journal:

Year:

1993

Language:

english

File:

PDF, 409 KB

english, 1993

9

Molecular characterization of β-thalassemia in Egyptians

Ibtessam R. Hussein, Samia A. Temtamy, Amal El-Beshlawy, Clare Fearon, Zeinab Shalaby, George Vassilopoulos, Haig H. Kazazian Jr.

Journal:

Year:

1993

Language:

english

File:

PDF, 471 KB

english, 1993

10

Deletions with inversions: Report of a mutation and review of the literature

Rhett P. Ketterling, Darrell O. Ricke, Mark W. Wurster, Steve S. Sommer

Journal:

Year:

1993

Language:

english

File:

PDF, 388 KB

english, 1993

11

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

Alison Condie, Rosalind Eeles, Anne-Lise Borresen, Christopher Coles, Colin Cooper, Jane Prosser

Journal:

Year:

1993

Language:

english

File:

PDF, 768 KB

english, 1993

12

A rapid and reliable PCR method for genotyping the ABO blood group

Denise S. O'Keefe, Alexander Dobrovic

Journal:

Year:

1993

Language:

english

File:

PDF, 310 KB

english, 1993

13

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaeeharidosis IH)

Samuel M. Moskowitz, Phuong T. Tieu, Elizabeth F. Neufeld

Journal:

Year:

1993

Language:

english

File:

PDF, 292 KB

english, 1993

14

A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population

Marta Zygulska, Antonin Eigel, Jacek J. Pietrzyk, Peter Miny, Jürgen Horst

Journal:

Year:

1993

Language:

english

File:

PDF, 207 KB

english, 1993

15

G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene

Luciano Baronciani, Fernando Tricta, Ernest Beutler

Journal:

Year:

1993

Language:

english

File:

PDF, 165 KB

english, 1993

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