Volume 8; Issue 4

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Human Mutation
Volume 8; Issue 4

Human Mutation

Volume 8; Issue 4

1

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

T. Jeffrey Keen, Chris F. Inglehearn

Journal:

Year:

1996

Language:

english

File:

PDF, 634 KB

english, 1996

2

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients

Kaisa Silander, Päivi Meretoja, Eva Nelis, Vincent Timmerman, Christine Van Broeckhoven, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1996

Language:

english

File:

PDF, 742 KB

english, 1996

3

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene

Tom Vulliamy, Ana Rovira, Nazarah Yusoff, Dolors Colomer, Lucio Luzzatto, Joan-Luis Vives-Corrons

Journal:

Year:

1996

Language:

english

File:

PDF, 966 KB

english, 1996

4

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity

S.S. Deeb, D.N. Nevin, L. Iwasaki, J.D. Brunzell

Journal:

Year:

1996

Language:

english

File:

PDF, 676 KB

english, 1996

5

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

Ulla-Maija Koivisto, Kimmo Kontula

Journal:

Year:

1996

Language:

english

File:

PDF, 896 KB

english, 1996

6

Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms

Elisabeth Oppliger Leibundgut, Bendicht Wermuth, Jean-Pierre Colombo, Sabina Liechti-Gallati

Journal:

Year:

1996

Language:

english

File:

PDF, 931 KB

english, 1996

7

Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for ∼94% of CF chromosomes

David J. Hughes, Alison J.M. Hill, Milan Macek Jr., Aileen O. Redmond, Norman C. Nevin, Colin A. Graham

Journal:

Year:

1996

Language:

english

File:

PDF, 734 KB

english, 1996

8

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

Berton Zbar, Takeshi Kishida, Fan Chen, Laura Schmidt, Eamonn R. Maher, Frances M. Richards, Paul A. Crossey, Andrew R. Webster, Nabeel A. Affara, Malcolm A. Ferguson-Smith, Hiltrud Brauch, Damjan Gla

Journal:

Year:

1996

Language:

english

File:

PDF, 917 KB

english, 1996

9

A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 alleles

Denise S. O'Keefe, Alexander Dobrovic

Journal:

Year:

1996

Language:

english

File:

PDF, 470 KB

english, 1996

10

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A

Laura E. Warner, Benjamin B. Roa, James R. Lupski

Journal:

Year:

1996

Language:

english

File:

PDF, 312 KB

english, 1996

11

Stop codon in exon 30 (E2069X) of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya

Philippe Maillet, Takafumi Inoue, Akio Kanzaki, Ayumi Yawata, Koji Kato, Faouzi Baklouti, Jean Delaunay, Yoshihito Yawata

Journal:

Year:

1996

Language:

english

File:

PDF, 231 KB

english, 1996

12

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen K.V. Reichardt, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 364 KB

english, 1996

13

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Bertrand Ségues, Pascale Saugier Veber, Daniel Rabier, Patrick Calvas, Jean-Marie Saudubray, Brigitte Gilbert-Dussardier, Jean-Paul Bonnefont, Arnold Munnich

Journal:

Year:

1996

Language:

english

File:

PDF, 226 KB

english, 1996

14

A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy

Sanjoy Gupta, Timothy Benstead, Paul Neumann, Duane Guernsey

Journal:

Year:

1996

Language:

english

File:

PDF, 236 KB

english, 1996

15

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease

Jiro Fujiyama, Hitoshi Sakuraba, Masaru Kuriyama, Takehisa Fujita, Kazuya Nagata, Hiroto Nakagawa, Mitsuhiro Osame

Journal:

Year:

1996

Language:

english

File:

PDF, 330 KB

english, 1996

16

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

Heiko Wiebusch, Harald Funke, Taco Bruin, Hans Bucher, Arnold von Eckardstein, John J.P. Kastelein, Gerd Assmann

Journal:

Year:

1996

Language:

english

File:

PDF, 249 KB

english, 1996

17

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia

Andrew Donnelly, Alison Colley, Denis Crimmins, John Mulley

Journal:

Year:

1996

Language:

english

File:

PDF, 259 KB

english, 1996

18

Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene

Daniela Steinberger, John B. Mulliken, Ulrich Müller

Journal:

Year:

1996

Language:

english

File:

PDF, 900 KB

english, 1996

19

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

Guy Van Camp, Erik Fransen, Lieve Vits, Geert Raes, Patrick J. Willems

Journal:

Year:

1996

Language:

english

File:

PDF, 109 KB

english, 1996

20

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

Heiko Wiebusch, Harald Funke, René Santer, Werner Richter, Gerd Assmann

Journal:

Year:

1996

Language:

english

File:

PDF, 125 KB

english, 1996

21

A novel mutation in the BRCA1 gene in a German early-onset breast cancer family

Beate Waindzoch, Klaus Grade, Burkhard Jandrig, Manuela Müller, Peter Schlag, Siegfried Scherneck

Journal:

Year:

1996

Language:

english

File:

PDF, 117 KB

english, 1996

22

A common base change in the promoter region of the human endothelial NO-synthase (NQS3) gene

Johannes Meier, Maja Affeldt, Christian Opitz, Franz X. Kleber, Astrid Speer

Journal:

Year:

1996

Language:

english

File:

PDF, 117 KB

english, 1996

23

Three novel APC gene mutations in portuguese FAP kindreds

Brendan Marshall, Gloria Isidro, Raquel Carvalhas, Isabel Veiga, Sergio Castedo, Jose Soares, Maria Guida Boavida

Journal:

Year:

1996

Language:

english

File:

PDF, 225 KB

english, 1996

24

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance

Pascal Jézéquel, Isabelle Guilhem, Jean Pierre Hespel, André Le Treut, Jean Yves Le Gall, Hubert Allannic, Martine Blayau

Journal:

Year:

1996

Language:

english

File:

PDF, 135 KB

english, 1996

25

Masthead

Journal:

Year:

1996

Language:

english

File:

PDF, 101 KB

english, 1996

26

A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene

H. Mittre, M. Barre, P. Leymarie

Journal:

Year:

1996

Language:

english

File:

PDF, 225 KB

english, 1996

27

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

Diana Valverde, Montserrat Baiget, Ramón Seminago, Elisabeth Del Rio, Blanca Garcia-Sandoval, Teresa Del Rio, Mdnica Bayés, Susana Balcells, Amalia Martinez, Daniel Grinberg, Carmen Ayuso

Journal:

Year:

1996

Language:

english

File:

PDF, 218 KB

english, 1996

28

Frameshift mutation at codon 642 of the hMLH1 gene in human endometrial cancer

Shinichi Fukushige, Shigeru Wakatsuki, Satoru Nagase, Akira Horii

Journal:

Year:

1996

Language:

english

File:

PDF, 212 KB

english, 1996

29

A novel mutation (S558X) causing choroideremia

Laurent Beaufère, Sylvie Tuffery, Christian Hamel, Bernard Amaud, Jacques Demaille, Mireille Claustres

Journal:

Year:

1996

Language:

english

File:

PDF, 112 KB

english, 1996