Volume 3; Issue 11

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Human Molecular Genetics
Volume 3; Issue 11

Human Molecular Genetics

Volume 3; Issue 11

1

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

J.WIIkln, Douglas, Bogaert, Ray, Lachman, Ralph S., L.Rimoin, David, Eyre, David R., Cohn, Daniel H.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.77 MB

english, 1994

2

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophy

D.McLean, Michael, Roy, Natalie, E.MacKenzle, Alexander, Salih, Maysoon, H.M.Burghes, Arthur, Simard, Louise, G.Kornelukw, Robert, lkeda, Joh-E., Surh, Linda

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.52 MB

english, 1994

3

RET proto-oncogene mutations in French MEN 2A and FMTC families

Schuffeneker, Isabelle, Billaud, Marc, Calender, Alain, Chambe, Béatrice, Ginet, Nicole, Calmettes, Claude, Modlglian, Elisabeth, Lenolr, Gilbert M., GETC,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 470 KB

english, 1994

4

A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1

Neuhausen, S.L., Swensen, J., Miki, Y., Llu, Q., Tavtiglan, S., Shattuck-Eidens, D., Kamb, A., Hobbs, M.R., Gingrich, J., Shizuya, H., Kim, U.-J., Cochran, C., Futreal, P.A., Wiseman, R.W., Lynch, H.T

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.35 MB

english, 1994

5

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

Stayton, Carol L., Dabovic, Branka, Gulisano, Massimo, Gecz, Jozef, Broccoll, VanIa, Glovanazzl, Serenella, Bossolasco, Michela, Monaco, Lucia, Rastan, Sohalla, BoncInelli, Edoardo, Blanchil, Marco E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.68 MB

english, 1994

6

E-selectin polymorphism and atherosclerosis: an association study

Wenze, Katrin, Felix, Stephan, KIeberi, Franz X., Brachold, Raff, Menke, Thomas, Schattke, Sebastian, Schulte, Karl L., Gläser, Christiane, Rohde, Klaus, Baumann, Gert, Speer, Astrid

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.15 MB

english, 1994

7

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion

Spelbrink, Johannes N., Van Oost, Bernard A., Bogert, Coby Van den

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.04 MB

english, 1994

8

Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference librairies

Lawrence, Brenda J., Schwabe, Wolfgang, Kioschls, Petra, Coy, Johannes F., Poustka, Annemarie, Brennan, Miles B., Hochgeschwender, Ute

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.64 MB

english, 1994

9

A frameshift mutation in the mouse α 1 glycine receptor gene ( Gira1 ) results in progressive neurological symptoms and juvenile death

Buckwalter, Marion S., Cook, Susan A., Davisson, Muriel T., White, W. Frost, Camper, Sally A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.99 MB

english, 1994

10

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

Casademont, Jordl, Barrientos, Antonal, Cardellach, Francese, Rötlg, Agnes, Grau, Josep-Maria, Montoya, Jullo, Beltlran, Belen, Cervantes, Francisco, Rozman, Cirll, Estlvill, Xavier, Urbano-Marque, Al

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.96 MB

english, 1994

11

The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase

A.Jones, Karen, M.Black, Donald, A.Brown, Melissa, L.Griffiths, Beatrice, M.Nicolai, Hans, A.Chambers, Julie, Bonjardim, Marisa, Xu, Chun-Fang, Boyd, Marie, MeFariane, Robert, Korn, Bernhard, Poustka,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.68 MB

english, 1994

12

Human APC gene expression in rodent colonic epithelium in vivo using liposomal gene delivery

Westbrook, Carol A., Chmura, Steven J., Arenas, Richard B., Kim, Su Young, Otto, Glen

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.46 MB

english, 1994

13

Accumulation of genetic alterations during esophageal carcinogenesis

Mori, Takahiro, Yanagisawa, Aklo, Yato,, Mlura, Koh, Nishihira, Tetsuro, Mori, Shozo, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.53 MB

english, 1994

14

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction

Lertrit, Patcharee, Kapsa, Robert M.L., Bernadette Jean-FRANCOLS, M.J., Thyagaraian, Dominic, Noer, A.Salfuddin, Marzukil, Sangkopt, Byrne, Edward

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 780 KB

english, 1994

15

Cloning the shared components of complex DNA resources

Brookes, Anthony J., SIorach, Euan M., Morrison, Karen E., Qureshl, Safia J., Blake, Derek, Davies, Kay, Porteous, David J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.61 MB

english, 1994

16

PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis

Kobayashi, Kazuhiro, Mlzuno, Kunihiko, Hida, Akiko, Komakl, Rie, Tomita, Keiko, Matsushita, Ikumi, Namlki, Mikio, Iwamoto, Teruaki, Tamura, Shohzoh, Minowada, Shlgeru, Nakahori, Yutaka

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.64 MB

english, 1994