Volume 13; Issue 6

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Human Mutation
Volume 13; Issue 6

Human Mutation

Volume 13; Issue 6

1

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Linda Tyfield, Juergen Reichardt, Judy Fridovich-Keil, David T. Croke, Louis J. Elsas II, Wolfgang Strobl, Libor Kozak, Turgay Coskun, Giuseppe Novelli, Yoshiyuki Okano, Cezary Zekanowski, Yoon Shin,

Journal:

Year:

1999

Language:

english

File:

PDF, 763 KB

english, 1999

2

Insertion of Alu element responsible for acute intermittent porphyria

Sami Mustajoki, Helena Ahola, Pertti Mustajoki, Raili Kauppinen

Journal:

Year:

1999

Language:

english

File:

PDF, 295 KB

english, 1999

3

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

Rita Gardella, Nicoletta Zoppi, Sergio Ferraboli, Dario Marini, Gianluca Tadini, Sergio Barlati, Marina Colombi

Journal:

Year:

1999

Language:

english

File:

PDF, 557 KB

english, 1999

4

Four novel mutations in the cystathionine β-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype

Raffaella de Franchis, Eva Kraus, Viktor Kozich, Gianfranco Sebastio, Jan P. Kraus

Journal:

Year:

1999

Language:

english

File:

PDF, 231 KB

english, 1999

5

Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis

Jicun Ren, Per Magne Ueland

Journal:

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

6

Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC

C. Gallou, D. Joly, A. Méjean, F. Staroz, N. Martin, G. Tarlet, M.T. Orfanelli, R. Bouvier, D. Droz, Y. Chrétien, J.M. Maréchal, S. Richard, C. Junien, C. Béroud

Journal:

Year:

1999

Language:

english

File:

PDF, 332 KB

english, 1999

7

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

Anne Marie Westerman, Mark M. Entius, Patrick P.C. Boor, Rita Koole, Ellen de Baar, G. Johan A. Offerhaus, Jan Lubinski, Dick Lindhout, Dicky J.J. Halley, Felix W.M. de Rooij, J.H. Paul Wilson

Journal:

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

8

Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

Gita Ohlsson, Jørn Müller, Niels Erik Skakkebæk, Marianne Schwartz

Journal:

Year:

1999

Language:

english

File:

PDF, 182 KB

english, 1999

9

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Fukuda, Atsushi Imamura, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Tadao Orii, Ronald J.A. Wanders, Peter G. Barth, Hugo W. Moser, Barba

Journal:

Year:

1999

Language:

english

File:

PDF, 425 KB

english, 1999

10

A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes

Franco Laccone, Robert Maiwald, Sonja Bingemann

Journal:

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

11

Osteogenesis imperfecta: Mosaicism and refinement of the genotype-phenotype map in OI type III

Allan M. Lund, Eva Åström, Stefan Söderhäll, Marianne Schwartz, Flemming Skovby

Journal:

Year:

1999

Language:

english

File:

PDF, 19 KB

english, 1999

12

Molecular characterization of phenylalanine hydroxylase deficiency in Chile

Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Veronica Cornejo, Erna Raimann, Magdalena Ugarte

Journal:

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

13

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects

Peter M. Smooker, Tamara J. Gough, Richard G.H. Cotton, Carla Alliaudi, Luisa de Sanctis, Irma Dianzani

Journal:

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

14

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation

Katharina Möller-Morlang, Kamiab Tavassoli, Antonin Eigel, Hartmut Pollmann, Jürgen Horst

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

15

Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

Lorel M. Colgin, Alden F.M. Hackmann, Raymond J. Monnat Jr.

Journal:

Year:

1999

Language:

english

File:

PDF, 84 KB

english, 1999

16

A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia

Klaus Kapelari, Zahra Ghanaati, Hartmut Wollmann, Manfred Ventz, Michael B. Ranke, Reinhard Kofler, Hartmut Peters

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

17

A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred

Cassandra M. Corvello, Roberta A.U. Bevilacqua, Benedito M. Rossi, Andrew J.G. Simpson

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

18

A novel splice site mutation (IVS17-2A>C) associated with Hermansky-Pudlak Syndrome

Scott C. Wildenberg, James P. Fryer, William S. Oetting, Richard A. King

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

19

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

A.M. Brown, S.M. Willi, G. Argyropoulos, W.T. Garvey

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

20

A missense mutation (W155R) in an American patient with Friedreich Ataxia

Malgorzata Labuda, Josee Poirier, Massimo Pandolfo

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

21

An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome

Siu-Yuen Chan, Yuk-Fan Hui, Yu-Lung Lau

Journal:

Year:

1999

Language:

english

File:

PDF, 9 KB

english, 1999

22

Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b

Ching-Wan Lam, Sui-Fan Tong, Yuen-Yu Lam, Bik-Yan Chan, Chun-Hung Ma, Pak-Leong Lim

Journal:

Year:

1999

Language:

english

File:

PDF, 865 KB

english, 1999

23

A neutral polymorphism (c1088C>T) in the estrogen receptor detected by DGGE

Michael Eckstein, Iris Vered, Avraham Karasik, Eitan Friedman

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

24

PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene

G.I. Korovaitseva, A. Grigorenko, N. Riazanskaia, E.I. Rogaev

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

25

A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis

Elizabeth Fagan, Stewart J. Payne

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

26

Polymorphism (g24914delA) in 5′-upstream region of presenilin 2 (PSEN2) gene

N. Riazanskaya, A. Grogorenko, F. Utenkov, G. Dvoryanchikov, E.I. Rogaev

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

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