Volume 87; Issue 4

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Human Genetics
Volume 87; Issue 4

Human Genetics

Volume 87; Issue 4

1

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

David S. Konecki, Uta Lichter-Konecki

Journal:

Year:

1991

Language:

english

File:

PDF, 1.32 MB

english, 1991

2

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

D. S. Konecki, M. Schlotter, F. K. Trefz, U. Lichter-Konecki

Journal:

Year:

1991

Language:

english

File:

PDF, 689 KB

english, 1991

3

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1

P. Edward Purdue, Michael J. Lumb, Jennifer Allsop, Christopher J. Danpure

Journal:

Year:

1991

Language:

english

File:

PDF, 349 KB

english, 1991

4

Identification of mutations in two families with sporadic hemophilia A

Christine Paynton, Gobinda Sarkar, Steve S. Sommer

Journal:

Year:

1991

Language:

english

File:

PDF, 517 KB

english, 1991

5

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)ndinucleotide repeat

Michael B. Petersen, James L. Weber, Susan A. Slaugenhaupt, Anne E. Kwitek, Melvin G. McInnis, Aravinda Chakravarti, Stylianos E. Antonarakis

Journal:

Year:

1991

Language:

english

File:

PDF, 402 KB

english, 1991

6

Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus

Patricia J. Wilkie, Lawrence J. Schut, Stephen S. Rich

Journal:

Year:

1991

Language:

english

File:

PDF, 468 KB

english, 1991

7

Mechanisms of insertional mutagenesis in human genes causing genetic disease

David N. Cooper, Michael Krawczak

Journal:

Year:

1991

Language:

english

File:

PDF, 782 KB

english, 1991

8

Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man

R. M. Speed, M. J. W. Faed, P. J. Batstone, K. Baxby, W. Barnetson

Journal:

Year:

1991

Language:

english

File:

PDF, 1.31 MB

english, 1991

9

Fragile X expression and X inactivation

Doris Wöhrle, Peter Steinbach

Journal:

Year:

1991

Language:

english

File:

PDF, 504 KB

english, 1991

10

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

Steen Kølvraa, Niels Gregersen, Alexandra I. F. Blakemore, Anne K. Schneidermann, Vibeke Winter, Brage S. Andresen, Diana Curtis, Paul C. Engel, Divry Pricille, William Rhead, Lars Bolund

Journal:

Year:

1991

Language:

english

File:

PDF, 395 KB

english, 1991

11

Orosomucoid (ORM 1) subtyping and formal genetics

C. Luckenbach, J. Kömpf, H. Ritter

Journal:

Year:

1991

Language:

english

File:

PDF, 460 KB

english, 1991

12

A polymorphic region defined by pCN2 (the 3′ nontranslated region of N-ras) maps to chromosome 9cen-p12

Tsutomu Nobori, Lisa Evans Hexdall, Dennis A. Carson

Journal:

Year:

1991

Language:

english

File:

PDF, 520 KB

english, 1991

13

Association between Rh and plasma iron binding (transferrin)

Carlos Y. Valenzuela, Alfredo Avendaño, Zuraiya Harb

Journal:

Year:

1991

Language:

english

File:

PDF, 370 KB

english, 1991

14

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

Thilo Dörk, Ulrich Wulbrand, Thomas Richter, Thomas Neumann, Heiner Wolfes, Brigitte Wulf, Günter Maass, Burkhard Tümmler

Journal:

Year:

1991

Language:

english

File:

PDF, 709 KB

english, 1991

15

Cytogenetic studies in human sperm

A. M. Estop, K. Cieply, V. Vankirk, S. Munne, K. Garver

Journal:

Year:

1991

Language:

english

File:

PDF, 583 KB

english, 1991

16

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13

Anjana Lal Pettigrew, Frank Greenberg, C. Thomas Caskey, David H. Ledbetter

Journal:

Year:

1991

Language:

english

File:

PDF, 973 KB

english, 1991

17

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

Jochen Reiss, David N. Cooper, Jerzy Bal, Ryszard Slomski, Garry R. Cutting, Michael Krawczak

Journal:

Year:

1991

Language:

english

File:

PDF, 583 KB

english, 1991

18

Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

Ernest Beutler, Wanda Kuhl, German F. R. Sáenz, R. Walter Rodríguez

Journal:

Year:

1991

Language:

english

File:

PDF, 301 KB

english, 1991

19

Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan

Lee-Ming Chuang, Tong-Yuan Tai, Tso-Ren Wang, Yang-Chyuan Chang, Kuan-Ho Chen, Ruey-Shiung Lin, Boniface J. Lin

Journal:

Year:

1991

Language:

english

File:

PDF, 323 KB

english, 1991

20

DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene

Margareta Sten-Linder, Marianne Olsson, Lennart Iselius, Holger Luthman, Suad Efendić

Journal:

Year:

1991

Language:

english

File:

PDF, 574 KB

english, 1991

21

Status of the search for a major genetic locus for affective disorder in the Old Order Amish

Andrew J. Pakstis, Judith R. Kidd, Carmela M. Castiglione, Kenneth K. Kidd

Journal:

Year:

1991

Language:

english

File:

PDF, 716 KB

english, 1991

22

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

Jin-Sung Lee, Gunnel Lundin, Maria Anvret, Lars Lannfelt, Lotta Forsell, Christiane Picat, Bernard Grandchamp

Journal:

Year:

1991

Language:

english

File:

PDF, 587 KB

english, 1991

23

Labeling of the centromeric region on human chromosome 8 by in situ hybridization

Heinz-Ulrich G. Weier, Joe W. Gray, Hans-Dieter Kleine

Journal:

Year:

1991

Language:

english

File:

PDF, 696 KB

english, 1991

24

Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe

Udo Trautmann, Gabriele Leuteritz, Gabriele Senger, Uwe Claussen, Wolfgang G. Ballhausen

Journal:

Year:

1991

Language:

english

File:

PDF, 363 KB

english, 1991

25

Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center

Anjana Lal Pettigrew, Edward R. B. McCabe, David H. Ledbetter, Frederick F. B. Elder

Journal:

Year:

1991

Language:

english

File:

PDF, 510 KB

english, 1991

26

The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

Ann-Marie Steen, Suzanne Marcus, Sigrid Sahlén, Karen Brøndum Nielsen, Bo Lambert

Journal:

Year:

1991

Language:

english

File:

PDF, 280 KB

english, 1991

27

Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster

George H. Sack, C.Conover Talbot, Bruce G. McCarthy, Emily L. Harris, Daniel Kastner, Luis Gruberg, Mordechai Pras

Journal:

Year:

1991

Language:

english

File:

PDF, 246 KB

english, 1991

28

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13

J. F. Andel, C. E. Catsman-Berrevoets, D. J. J. Halley, E. Swaay, M. F. Niermeijer, B. A. Oostra

Journal:

Year:

1991

Language:

english

File:

PDF, 271 KB

english, 1991

29

Molecular analysis of cystic fibrosis in the Hungarian population

Margit Nemeti, Elaine Louie, John P. Johnson, Zoltan Papp

Journal:

Year:

1991

Language:

english

File:

PDF, 177 KB

english, 1991

30

Cytogenetic studies on MIC gas-exposed persons in Bhopal

Journal:

Year:

1991

Language:

english

File:

PDF, 260 KB

english, 1991

31

The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families

B. Peral, C. Hernández-Chico, J. L. San Millán, F. Moreno, R. Granell, J. Molano, S. Carrasco, J. J. Tellería, M. Devoto

Journal:

Year:

1991

Language:

english

File:

PDF, 150 KB

english, 1991

32

Announcements

Journal:

Year:

1991

Language:

english

File:

PDF, 85 KB

english, 1991

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