Volume 2; Issue 3

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Human Molecular Genetics
Volume 2; Issue 3

Human Molecular Genetics

Volume 2; Issue 3

1

Multiple forms of the APC gene transcripts and their tissue-specific expression

Horii, Akira, Nakatsuru, Shuichi, Ichii, Shigetoshi, Nagase, Hiroki, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.94 MB

english, 1993

2

An Mspl polymorphism in the hyman serotonin receptor gene (HTR2): detection by DGGE and RFLP analysis

Warren, James T., Peacock, Michael L., Rodriguez, Luis C., Fink, John K.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 79 KB

english, 1993

3

VNTR polymorphism for the human dopamine transporter gene (DAT1)

Byerley, William, Hoff, Mark, Holik, John, Caron, Marc G., Giros, Bruno

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 99 KB

english, 1993

4

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene

Greenspan, Daniel S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 712 KB

english, 1993

5

DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency

Walker, J.I.H., Layton, D.M., Bellingham, A.J., Morgan, M.J., Faik, P.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.74 MB

english, 1993

6

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians

Gostout, Bobbie, Vielhaber, Erica, Ketterling, Rhett P., Yoon, Hong-Sup, Bottema, Cynthia D.K., Kasper, Carol K., Koerper, Marion A., Sommer, Steve S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 560 KB

english, 1993

7

Gene therapy for cystic fibrosis—Where and When?

Porteous, David J., Dorin, Julia R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 231 KB

english, 1993

8

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Cheadle, Jeremy P., AI-Jader, Layla N., Meredith, Alison L.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.08 MB

english, 1993

9

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

Prior, Thomas W., Papp, Audrey C., Snyder, Pamela J., Burghes, Arthur H.M., Sedra, Mary S., Western, Lorraine M., Bartello, Claire, Mendell, Jerry R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.00 MB

english, 1993

10

Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms

Koorey, David J., Bishop, G.Alexander, McCaughan, Geoffrey W.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.39 MB

english, 1993

11

Molecular characterization of the H319Q galactosemia mutation

K.V.Reichardt, Juergen, Novelli, Giuseppe, Dallapiccola, Bruno

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.13 MB

english, 1993

12

High frequencies in African and non-African populations of independent mutation 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:

1993

Language:

english

File:

PDF, 32 KB

english, 1993

13

Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population

Glavac, Damjan, Ravnik-Glavac, Metka, Dean, Michael

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.00 MB

english, 1993

14

Author index

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 61 KB

english, 1993

15

Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene

Mahadevan, Mani S., Amemiya, Chris, Jansen, Gert, Sabourin, Luc, Baird, Stephen, Neville, Catherine E., Wormskamp, Nicole, Segers, Bart, Batzer, Mark, Lamerdin, Jane, de Jong, Peter, Wieringa, Bé, Kor

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.66 MB

english, 1993

16

Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification

Dvořáková, Dana, Fajkusová, Lenka

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.61 MB

english, 1993

17

Alternative splicing in the first nucleotide binding fold of CFTR

Will, Katrin, Stuhrmann, Manfred, Dean, Michael, Schmidtke, Jörg

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.94 MB

english, 1993

18

pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24)

Lia, Kristen M., Bruns, Gail A.P., LeBeau, Michelle M., Silverman, Gary A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.73 MB

english, 1993

19

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene

Verderio, E., Cavadini, P., Pandolfo, M., DiDonato, S., Taroni, F.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.53 MB

english, 1993

20

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2

Mole, Sara E., Mulligan, Lois M., Healey, Catherine S., Ponder, Bruce A.J., Tunnacliffe, Alan

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.13 MB

english, 1993

21

Expression of the cystic fibrosis gene in human foetal tissues

Trezise, Ann E.O., Chambers, Julie A., Wardle, Catherine J., Gould, Stephen, Harris, Ann

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.15 MB

english, 1993

22

Point mutation in a 3′ flanking sequence of the alpha-1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence

Morgan, Kevin, Scobie, Graeme, Kalsheker, Noor A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.60 MB

english, 1993

23

Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene

Jansen, Gert, Coerwinkel-Driessen, Marga, Nillesen, Willy, Brunner, Han, Wieringa, Bé

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 67 KB

english, 1993

24

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues

Tizzano, Eduardo F., Chitayat, David, Buchwald, Manuel

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.34 MB

english, 1993

25

Genetic linkage between Von Hippel—Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus

Crossey, P.A., Maher, E.R., Jones, M.H., Richards, F.M., Latif, F., Phipps, M.E., Lush, M., Foster, K., Tory, K., Green, J.S., Oostra, B., Yates, J.R.W., Linehan, W.M., Affara, N.A., Lerman, M., Zbar,

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 406 KB

english, 1993

26

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library

Snell, R.G., Doucette-Stamm, L.A., Gillespie, K.M., Taylor, S.A.M., Riba, L., Bates, G.P., Altherr, M.R., MacDonald, M.E., Gusella, J.F., Wasmuth, J.J., Lehrach, H., Housman, D.E., Harper, P.S., Shaw,

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.09 MB

english, 1993

27

Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping

Silverman, Gary A., Jenkins, Richard, Bruns, Gail A.P., LeBeau, Michelle M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.47 MB

english, 1993

28

The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1

Yon, Jeffrey, Jones, Tania, Garson, Ken, Sheer, Denise, Fried, Mike

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.00 MB

english, 1993

29

PA2.1 detects a Taq l polymorphism in the pseudoautosomal region

Henke, A., Rappold, G.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 83 KB

english, 1993

30

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

Gardner, Emily, Papi, Laura, Easton, Douglas F., Cummings, Tim, Jackson, Charles E., Kaplan, Michael, Love, Donald R., Mole, Sara E., Moore, Julie K., Mulligan, Lois M., Norum, Robert A., Ponder, Marg

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.32 MB

english, 1993

31

A centromeric microsatellite probe on chromosome 3: LIB 9-95ca (D3S1338)

Schmidt, Laura, Li, Hua, Duh, Fuh-Mei C., Wei, Ming-Hui, Lerman, Michael I., Zbar, Berton, Tory, Kalman

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 99 KB

english, 1993

32

A new polymorphic probe on chromosome 22q (XD6) (D22S313)

Cardoso, H., Mori, M.A., Crispino, B., Mimbacas, A., Uriarte, R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 79 KB

english, 1993

33

Microsatellite repeat polymorphism at the D13S197 locus

Hong, Hee-Kyung, Giorda, Roberto, Yu, Ling Mei, Trucco, Massimo, Chakravarti, Aravinda

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 101 KB

english, 1993

34

Dinucleotide repeat polymorphism at the D22S268 locus

Marineau, Claude, Baron, Chantal, Delattre, Olivier, Zucman, Jessica, Thomas, Gilles, Rouleau, Guy A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 92 KB

english, 1993

35

Rapid physical mapping of YAC inserts by random integration of I- Sce I sites

Colleaux, Laurence, Rougeulle, Claire, Avner, Philip, Dujon, Bernard

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.75 MB

english, 1993

36

D11S970 CATT polymorphism (RC29) located near the MEN1 locus at 11q13

Taggart, R. Thomas, Krebs, Christopher J., Mullins, Chadwick M., Horton, Joseph H., Paradee, William J., Slusher, Rodney

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 92 KB

english, 1993

37

AK1 detects a VNTR locus in the pseudoautosomal region

Klink, A., Wapenaar, M., Ommen, G.J.B. van, Rappold, G.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 83 KB

english, 1993

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