Volume 9; Issue 1

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Human Mutation
Volume 9; Issue 1

Human Mutation

Volume 9; Issue 1

1

Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations

Fred D. Ledley, David S. Rosenblatt

Journal:

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

2

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

Marian A. Kroos, Magna Van der Kraan, Otto P. Van Diggelen, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Year:

1997

Language:

english

File:

PDF, 158 KB

english, 1997

3

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

Kit-Sing Au, Joseph A. Rodriguez, Estanislado Rodriguez Jr., William B. Dobyns, Mauricio R. Delgado, Hope Northrup

Journal:

Year:

1997

Language:

english

File:

PDF, 240 KB

english, 1997

4

Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects

Sandhya V. Koppula, Linda S. Robbins, Dongsi Lu, Eric Baack, Clifton R. White Jr., Neil A. Swanson, Roger D. Cone

Journal:

Year:

1997

Language:

english

File:

PDF, 214 KB

english, 1997

5

A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

Jianjun Shen, Yong Bao, Yuan-Tsong Chen

Journal:

Year:

1997

Language:

english

File:

PDF, 153 KB

english, 1997

6

Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene

Dominic Jack, Jeffrey Bidwell, Malcolm Turner, Nigel Wood

Journal:

Year:

1997

Language:

english

File:

PDF, 194 KB

english, 1997

7

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

Eva Nelis, Sandra Simokovic, Vincent Timmerman, Ann Löfgren, Hubert Backhovens, Peter De Jonghe, Jean-Jacques Martin, Christine Van Broeckhoven

Journal:

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

8

Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively

Jennifer L. Walker, Joanne Dixon, Colin R. Fenton, John Hungerford, Sally A. Lynch, Susan A. R. Stenhouses, A Christian, Ian W. Craig

Journal:

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

9

Mutations of the androgen receptor gene in patients with complete androgen insensitivity

Sibylle Jakubiczka, Stefanie Nedel, Edmond A. Werder, Engelbert Schleiermacher, Ursel Theile, Gerhard Wolff, Peter Wieacker

Journal:

Year:

1997

Language:

english

File:

PDF, 185 KB

english, 1997

10

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

David W. Anderson, Smita Thakker-Varia, Gerard Tromp, Helena Kuivaniemi, Catherine A. Stolle

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

11

A novel splice site mutation (156 + 1G→A) in the TSC2 gene

A Kumar, RS Kandt, C Wolpert, AD Roses, MA Pericak-Vance, JR Gilbert

Journal:

Year:

1997

Language:

english

File:

PDF, 73 KB

english, 1997

12

Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1997

Language:

english

File:

PDF, 104 KB

english, 1997

13

A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease

M Watanabe, M Aoki, K Abe, M Shoji, T Iizuka, Y Ikeda, S Hirai, K Kurokawa, T Kato, H Sasaki, Y Itoyama

Journal:

Year:

1997

Language:

english

File:

PDF, 120 KB

english, 1997

14

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

Rob. B. van der Luijt, P. Meera Khan, Hans F. A. Vasen, Carli M. J. Tops, Inge S. J. van Leeuwen-Cornelisse, Juul Th. Wijnen, Heleen M. van der Klift, Rob J. Plug, Gerrit Griffioen, Riccardo Fodde

Journal:

Year:

1997

Language:

english

File:

PDF, 223 KB

english, 1997

15

Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease

Dennis Bartholomew, Thomas Abshire, Melissa Fries, Alice Smith

Journal:

Year:

1997

Language:

english

File:

PDF, 75 KB

english, 1997

16

Novel mutation of the myelin P0 gene in a CMT1B family

E Sorour, J MacMillan, M Upadhyaya

Journal:

Year:

1997

Language:

english

File:

PDF, 108 KB

english, 1997

17

Three novel mutations in the coproporphyrinogen oxidase gene

Jérôme Lamoril, Jean-Charles Deybach, Hervé Puy, Bernard Grandchamp, Yves Nordmann

Journal:

Year:

1997

Language:

english

File:

PDF, 109 KB

english, 1997

18

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Bernard Aral, Marie Coudé, Jacqueline London, Joelle Aupetit, Jean-François Chassé, Marie-Thérèse Zabot, Bernadette Chadefaux-Vekemans, Pierre Kamoun

Journal:

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

19

Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis

Daniel R. Jacobson, Timothy Pan, Robert A. Kyle, Joel N. Buxbaum

Journal:

Year:

1997

Language:

english

File:

PDF, 98 KB

english, 1997

20

Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype

Tina Martino, Feige Kaplan, Stanley Diamond, Ariella Oppenheim, Charles R. Scriver

Journal:

Year:

1997

Language:

english

File:

PDF, 98 KB

english, 1997

21

Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C)

Ståle Ellingsen, Per M. Knappskog, Hans Geir Eiken

Journal:

Year:

1997

Language:

english

File:

PDF, 117 KB

english, 1997

22

New splicing mutation in exon 5–6 of the p53-tumor suppressor gene in a malignant schwannoma

Regine Schneider-Stock, Yoshinao Oda, Albert Roessner

Journal:

Year:

1997

Language:

english

File:

PDF, 185 KB

english, 1997

23

CTG trinucleotide repeat lengths in myotonic dystrophy alleles of patients with senile cataracts

Stephen J. Aves, Nicholas Tongue, Katharine L. G. Findlay, Walter J. C. C. Rich, Sarah P. West

Journal:

Year:

1997

Language:

english

File:

PDF, 103 KB

english, 1997

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