Volume 13; Issue 1

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Human Mutation
Volume 13; Issue 1

Human Mutation

Volume 13; Issue 1

1

From gels to chips: “Minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphisms

Ann-Christine Syvänen

Journal:

Year:

1999

Language:

english

File:

PDF, 383 KB

english, 1999

2

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

Eva Nelis, Neva Haites, Christine Van Broeckhoven

Journal:

Year:

1999

Language:

english

File:

PDF, 569 KB

english, 1999

3

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

Pablo J. Patiño, Juan E. Perez, Juan A. Lopez, Antonio Condino-Neto, Anete S. Grumach, Jorge H. Botero, John T. Curnutte, Diana García de Olarte

Journal:

Year:

1999

Language:

english

File:

PDF, 526 KB

english, 1999

4

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease

Kenichi Furihata, Anthi Drousiotou, Yoji Hara, George Christopoulos, Goula Stylianidou, Violetta Anastasiadou, Ichiro Ueno, Panos Ioannou

Journal:

Year:

1999

Language:

english

File:

PDF, 442 KB

english, 1999

5

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

R. Rosipal, J. Lamoril, H. Puy, V. Da Silva, L. Gouya, F.W.M. De Rooij, K. Te Velde, Y. Nordmann, P. Martàsek, J.C. Deybach

Journal:

Year:

1999

Language:

english

File:

PDF, 478 KB

english, 1999

6

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

Jacques Poncin, Roger Abs, Brigitte Velkeniers, Maryse Bonduelle, Marc Abramowicz, Jean-Jacques Legros, Alain Verloes, Michel Meurisse, Luc Van Gaal, Christine Verellen, Lucien Koulischer, Albert Beck

Journal:

Year:

1999

Language:

english

File:

PDF, 378 KB

english, 1999

7

Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity

Johannes Berger, Marion Gmach, Udo Mayr, Brunhilde Molzer, Hanno Bernheime

Journal:

Year:

1999

Language:

english

File:

PDF, 332 KB

english, 1999

8

Mutation analyses of North American APS-1 patients

Maarit Heino, Hamish S. Scott, Qiaoyi Chen, Pärt Peterson, Ulla Mäenpää, Marie-Pierre Papasavvas, Laureane Mittaz, Christine Barras, Colette Rossier, George P. Chrousos, Constantine A. Stratakis, Kent

Journal:

Year:

1999

Language:

english

File:

PDF, 383 KB

english, 1999

9

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

Najma al-Jandal, G. Jane Farrar, Anna-Sophia Kiang, Marian M. Humphries, Noreen Bannon, John B.C. Findlay, Peter Humphries, Paul F. Kenna

Journal:

Year:

1999

Language:

english

File:

PDF, 583 KB

english, 1999

10

Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153–171.

Peter K. Rogan, Brian M. Faux, Thomas D. Schneider

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Year:

1999

File:

PDF, 49 KB

1999

11

Erratum: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)

W.S. Oetting, J.P. Fryer, R.A. King

Journal:

Year:

1999

Language:

english

File:

PDF, 4 KB

english, 1999

12

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)

David A.R. Bessant, Shagufta Khaliq, Abdul Hameed, Khalid Anwar, Annette M. Payne, S. Qasim Mehdi, Shomi S. Bhattacharya

Journal:

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

13

Novel mutations in African American patients with glycogen storage disease type II

Nina Raben, Eunice Lee, Laura Lee, Rochelle Hirschhorn, Paul H. Plotz

Journal:

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

14

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India

P. Basu, P.K. Gangopadhaya, S.C. Mukherjee, K.K. Sinha, N.P. Bhattacharyya

Journal:

Year:

1999

Language:

english

File:

PDF, 19 KB

english, 1999

15

Identification of 8 new mutations in Brazilian families with Marfan syndrome

Ana B.A. Perez, Lygia V. Pereira, Decio Brunoni, Mayana Zatz, Maria Rita Passos-Bueno

Journal:

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

16

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome

Sibylle Jakubiczka, Thomas Bettecken, Markus Stumm, Josef Neulen, Peter Wieacker

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

17

A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy

Francesco Baudi, Cristina Grandinetti, Barbara Quaresima, PierFrancesco Tassone, Vito Barbieri, Francesco Costanzo, Salvatore Venuta

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

18

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

T.G. Markova, S.P. Shevtsov, L.N. Moskolenko, A.A. Lantsov, E.I. Schwartz

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

19

A g5580 T>C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene

Thierry Bienvenu, Dominique Hubert, Daniel Dusser, Cherif Beldjord

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999