Volume 1; Issue 4

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Human Molecular Genetics
Volume 1; Issue 4

Human Molecular Genetics

Volume 1; Issue 4

1

A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine β-hydroxylase locus

Nahmias, Joseph, Burley, Mari-Wyn, Povey, Sue, Porter, Chris, Craig, Ian, Wolfe, Jonathan

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.79 MB

english, 1992

2

A further tetranucleotide repeat polymorphism in the vWF gene

Kimpton, C., Walton, A., Gill, P.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 89 KB

english, 1992

3

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

Morell, Robert, Friedman, Thomas B., Moeljopawiro, Sukarti, Hartono,, Soewito,, Asher, James H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 3.43 MB

english, 1992

4

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

Ballabio, Andrea, Andria, Generoso

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 593 KB

english, 1992

5

A strategy for the selection of transcribed sequences in the Xq28 region

Korn, Bernhard, Sedlacek, Zdenek, Manca, Antonella, Kioschis, Petra, Konecki, David, Lehrach, Hans, Poustka, Annemarie

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 7.20 MB

english, 1992

6

Skipping of exon 5 as a consequence of the 711 + 1 G→T mutation in the CFTR qene

Fonknechten, N., Chomel, J.-C., Kitzis, A., Kahn, A., Kaplan, J.-C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.81 MB

english, 1992

7

An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome

Maestrini, Elena, Tamanini, Filippo, Kioschis, Petra, Gimbo, Elisabeth, Marinelli, Paola, Tribioli, Carla, D'Urso, Michele, Palmieri, Giuseppe, Poustka, Annemarie, Toniolo, Daniela

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 894 KB

english, 1992

8

Dinucleotide repeat polymorphism at the D18S37 locus

Sharma, V., Guo, Z., Litt, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 101 KB

english, 1992

9

Dinucleotide repeat polymorphism at the D21S236 locus

Sharma, V., Jong, P.de., Yokobata, K., Litt, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 103 KB

english, 1992

10

Author index

Journal:

Human Molecular Genetics

Year:

1992

File:

PDF, 30 KB

1992

11

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population

Cuppens, Harry, Loumi, Ourida, Marynen, Peter, Cassiman, Jean-Jacques

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.01 MB

english, 1992

12

Identification and characterization of a new gene in the human Xq28 region

Ouweland, Ans M.W.van den, Kioschis, Petra, Verdijk, Marian, Tamanini, Filippo, Toniolo, Daniela, Poustka, Annemarie, Oost, Bernard Van

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.64 MB

english, 1992

13

Constraints acting on the exon positions of the splice site sequences and local amino acid composition of the protein

Fichant, Gwennaele A.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 772 KB

english, 1992

14

Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci

Rogaev, E.I., Keryanov, S.A., Malyako, Y.K.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 69 KB

english, 1992

15

RFLP detected by a genomic probe from the human X-Iinked proteolipid protein gene, PLP

Raskind, Wendy H., Wolff, John, Hudson, Lynn D., Bird, Thomas D.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 90 KB

english, 1992

16

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

Biancalana, V., Serville, F., Prommier, J., Julien, J., Hanauer, A., Mandel, J. L.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.68 MB

english, 1992

17

Dinucleotide repeat polymorphism at the D5S356 locus

Polymeropoulos, Mihael, Xiao, Hong, Merril, Carl R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 80 KB

english, 1992

18

Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2

Dixon, Michael J., Dixon, Jill, Raskova, Dagmar, Le Beau, Michelle M., Williamson, Robert, Kinger, Katherine, Landes, Gregory M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.14 MB

english, 1992

19

Polymorphism of the CTLA1 gene on chromosome 14

Nguyen, V., Haddad, P., Cox, D.W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.79 MB

english, 1992

20

Dinucleotide repeat polymorphism at the human erythroid alpha-spectrin (SPTA1) mRNA gene detected using PCR

Bodfish, Paul, Warne, Diane, Nyberg, Kerstin, Spurr, Nigel K.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 89 KB

english, 1992

21

An Eco RI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q

Sander, A.K., Liechti-Gallati, S., Kunze, N., Moser, H., Zingg, M., Raveh, J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 90 KB

english, 1992

22

Dinucleotide repeat polymorphism at the D3S1229 locus

Xiao, Hong, Merril, Carl R., Polymeropoulos, Mihael

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 80 KB

english, 1992

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