Volume 1; Issue 9

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Human Molecular Genetics
Volume 1; Issue 9

Human Molecular Genetics

Volume 1; Issue 9

1

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria

Jeruzelska, J., Melle, D., Matuszak, R., Borski, K., Munnich, A.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 297 KB

english, 1992

2

High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene

Lipscombe, R. J., Sumiya, M., Hill, A. V. S., Lau, Y. L., Levinsky, R. J., Summerfield, J. A., Turner, M. W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 533 KB

english, 1992

3

Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA

Johnson, D. H., Kroisel, P. M., Klapper, H. J., Rosenkranz, W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 278 KB

english, 1992

4

CM8, a human sequence with putative centromeric function, does not map to the centromere but is present in one to two copies at 9qter

McGill, N. I., Fantes, J., Cooke, H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 411 KB

english, 1992

5

Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4)

Milatovich, A., Hsieh, C.-L., Bonaminio, G., Tecott, L., Francke, U.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 803 KB

english, 1992

6

A new PKU mutation associated with haplotype 12

Desviat, L. R., Perez, B., Ugarte, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 333 KB

english, 1992

7

A novel G protein-coupled receptor kinase gene cloned from 4p16.3

Ambrose, C., James, M., Barnes, G., Lin, C., Bates, G., Altherr, M., Duyao, M., Groot, N., Church, D., Wasmuth, J. J., Lehrach, H., Housman, D., Buckler, A., Gusella, J. F., MacDonald, M. E.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 807 KB

english, 1992

8

Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)

Mills, K. A., Even, D., Murray, J. C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

9

Cloning and mapping of the -adducin gene close to D4S95 and assessment of its relationship to Huntington disease

Goldberg, Y. P., Lin, B.- Y., Andrew, S. E., Nasir, J., Graham, R., Glaves, M. L., Hutchinson, G., Theilmann, J., Ginzinger, D. G., Schappert, K., Clarke, L., Rommens, J. M., Hayden, M. R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.26 MB

english, 1992

10

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Crotty, P. L., Braun, S. E., Anderson, R. A., Whitley, C. B.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 507 KB

english, 1992

11

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

Kuwano, A., Mutirangura, A., Dittrich, B., Buiting, K., Horsthemke, B., Saitoh, S., Niikawa, N., Ledbetter, S. A., Greenberg, F., Chinault, A. C., Ledbetter, D. H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 46 KB

english, 1992

12

A highly polymorphic polypurine sequence on chromosome 8 (D8S210)

Brereton, H. M., Turner, D. R., Firgaira, F. A., Ruffin, R. E.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 74 KB

english, 1992

13

Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene

Wang, Y., Sadler, L., Hecht, J. T.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 76 KB

english, 1992

14

Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene

Goto, J., Figlewicz, D. A., Gnirke, A., Khodr, N., Krizus, A., Rouleau, G. A.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 292 KB

english, 1992

15

Molecular isolation and characterization of an expressed gene from the human Y chromosome

Zhang, J. S., Yang-Feng, T. L., Muller, U., Mohandas, T. K., de Jong, P. J., Lau, Y.-F. C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.48 MB

english, 1992

16

Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene)

Zhang, Z. P., Deng, L. P., Blomback, M., Anvret, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 76 KB

english, 1992

17

La carte des microsatellites est arrivee!

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 414 KB

english, 1992

18

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

Stone, E. M., Kimura, A. E., Folk, J. C., Bennett, S. R., Nichols, B. E., Streb, L. M., Sheffield, V. C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.15 MB

english, 1992

19

Dinucleotide repeat polymorphism at the D18S74E locus

Polymeropoulos, M. H., Xiao, H., Merril, C. R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 82 KB

english, 1992

20

Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D1 6S320

Shen, Y., Thompson, A. T., Holman, K., Callen, D. F., Sutherland, G. R., Richards, R. I.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

21

The putative centromere-forming sequence CM8 is a single copy sequence and is not a component of most human centrnmeres

Cooper, K. F., Tyler-Smith, C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 338 KB

english, 1992

22

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients

Zhang, Z. P., Falk, G., Blomback, M., Egberg, N., Anveret, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 311 KB

english, 1992

23

Two dinucleotide repeat polymorphisms at the DXS571 locus

Curtis, A. R. J., Roustan, P., Kamakari, S., Thiselton, D., Lindsay, S., Bhattacharya, S. S.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 70 KB

english, 1992

24

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

Decker, R. A., Ponder, B. A., Mole, S. E., Weber, J. L.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 64 KB

english, 1992

25

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

Fernandes, M., Kaplan, F., Natowicz, M., Prence, E., Kolodny, E., Kaback, M., Hachtman, P.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 444 KB

english, 1992

26

CCG repeat polymorphism at the c-Ha-ras oncogene locus

Riggins, G. J., Lokey, L. K., Warren, S. T.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 247 KB

english, 1992

27

Centromeres-primary constrictions are primarily complicated

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 171 KB

english, 1992

28

Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 1 4q11.2 - 12)

Harrison, L., Ascione, G., Menninger, J. C., Ward, D. C., Demple, B.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 617 KB

english, 1992

29

Subject Index

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 379 KB

english, 1992

30

Cloning and characterization of an interstitial deletion at chromosome 11p15 in a sporadic breast cancer

Miyagi, M., Inazawa, J., Takita, K.-i., Nakamura, Y.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 562 KB

english, 1992

31

Author Index

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 242 KB

english, 1992

32

Dinucleotide repeat polymorphism at the DXS559 locus

Roustan, P., Curtis, A. R. J., Kamakari, S., Thiselton, D., Lindsay, S., Bhattacharya, S. S.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 97 KB

english, 1992

33

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene

Rogaev, E., Rogaeva, E., Lukiw, W. J., Vaula, G., Liang, Y., Hancock, R., McLachlan, D. C., St George-Hyslop, P. H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 88 KB

english, 1992

34

PCR detection of a dinucleotide repeat in the human histidine-rich glycoprotein (HRG) gene

Hennis, B. C., Havelaar, A. C., Kluft, C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 88 KB

english, 1992

35

An Rsal polymorphism in the human serotonin receptor gene (HTR1A): detection by DGGE and RFLP analysis

Warren, J. T., Michael, L. P., Fink, J. K.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 97 KB

english, 1992

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