Volume 1; Issue 3

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Human Molecular Genetics
Volume 1; Issue 3

Human Molecular Genetics

Volume 1; Issue 3

1

The search for Y chromosome polymorphism is extended to negroids

Spurdle, Amanda, Jenkins, Trefor

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 164 KB

english, 1992

2

An Alu variable polyA repeat polymorphism upstream of L- myc at 1p32

Mäkelä, Tomi P., Hellsten, Elina, Vesa, Jouni, Alitalo, Kari, Peltonen, Leena

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 93 KB

english, 1992

3

G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu↑Lys mutation

Ahluwalia, A., Corcoran, C.M., Vulliamy, T.J., Ishwad, C.S., Naidu, J.M., Argusti, A., Stevens, D.J., Mason, P.J., Luzzatto, L.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 114 KB

english, 1992

4

Sequence of the exon-containing regions of the human factor VIII gene

Gitschier, Jane, Wood, William I.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 97 KB

english, 1992

5

Both mutations in G6PD A — are necessary to produce the G6PD deficient phenotype

Town, Margaret, Bautista, Jose M., Mason, Philip J., Luzzatto, Lucio

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 3.20 MB

english, 1992

6

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Steén-Bondeson, M.-L., Dahl, N., Tönnesen, T., Kleijer, W.J., Seidlitz, G., Gustavson, K.-H., Wilson, P.J., Morris, C.P., Hopwood, J.J., Pettersson, U.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.90 MB

english, 1992

7

Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val→lle

Fidani, Liana, Rooke, Karen, Chartier-Harlin, Marie-Christine, Hughes, David, Tanzi, Rudi, Mullan, Mike, Roques, Penelope, Rossor, Martin, Hardy, John, Goate, Alison

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 3.46 MB

english, 1992

8

Isolation and sequence of two genes associated with a CpG island 5′ of the factor VIII gene

Kenwrick, Susan, Levinson, Barbara, Taylor, Sherry, Shapiro, Amy, Gitschier, Jane

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 5.66 MB

english, 1992

9

Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus

Tagle, Danilo A., Blanchard-McQuate, Kristina L., Collins, Francis S.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 104 KB

english, 1992

10

Genetic linkage of the human gene for phenylethanol-amine N-methyltransferase (PNMT), the adrenaline-synthesizing enzyme, to DNA markers on chromosome 17q21–q22

Hoehe, Margret R., Plaetke, Rosemarie, Otterud, Brith, Stauffer, Dora, Holik, John, Byerley, William F., Baetge, E. Edward, Gershon, Elliot S., Lalouel, Jean-Marc, Leppert, Mark

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.48 MB

english, 1992

11

An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the monoamine oxidase A gene

Hendriks, Rudolf W., Chen, Zheng-Yi, Hinds, Heather, Schuurman, Ruud K. B., Craig, Ian W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 5.39 MB

english, 1992

12

Microsatellite polymorphisms at the D11S554 and D11S569 loci

Phromchotikul, T., Browne, D., Litt, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 71 KB

english, 1992

13

Cloning of the Huntington disease region in yeast artificial chromosomes

Zuo, Jian, Robbins, Carolyn, Taillon-Miller, Patricia, Cox, David R., Myers, Richard M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.45 MB

english, 1992

14

A novel mutation in the p53 gene in a Burkitt's lymphoma cell line

Bhatia, Kishor, Gutierrez, Marina I., Magrath, Ian T.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.93 MB

english, 1992

15

Author index

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 34 KB

english, 1992

16

Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci

Browne, D., Barker, D., Litt, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 71 KB

english, 1992

17

ACE (or PNMT?) in the hole

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 205 KB

english, 1992

18

Dinucleotide repeat polymorphism at the DXS178 locus

Allen, R.Cutler, Belmont, John W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 92 KB

english, 1992

19

Transcription of deleted mitochondrial DNA in human colon adenocarcinoma cells

Savre-Train, Isabelle, Piatyszek, Mieczyslaw A., Shay, Jerry W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.85 MB

english, 1992

20

Dinucleotide repeat polymorphism at the HOX 2B locus

Dow, Eleanor, Ferguson-Smith, Anne C., Caplin, Benjamin, Williamson, Robert

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 94 KB

english, 1992

21

Characterization of a YAC containing part or all of the Norrie disease locus

Chen, Z.-Y., Sims, K.B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X.O., Davies, K.E., Craig, I.W.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.43 MB

english, 1992

22

Standards for reporting alleles at highly polymorphic loci: a proposal

Spurr, Nigel K.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 138 KB

english, 1992

23

cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus

Liu, Wanguo, Vance, Jeffrey, Smith, David I.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

24

The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat

Wilcox, Edward R., Rivolta, Marcelo N., Ploplis, Barbara, Potterf, Steven B., Fex, Jörgen

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 104 KB

english, 1992

25

Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus

Hentati, A., Hu, P., Asgharzadeh, S., Siddique, T.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 94 KB

english, 1992

26

An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3

Lennon, G.G., Lamerdin, J., Lieuallen, K., Amemiya, C., Aslanidis, C., Jong, P.J.de, Carrano, A.V

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 93 KB

english, 1992