Volume 9; Issue 3

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Human Mutation
Volume 9; Issue 3

Human Mutation

Volume 9; Issue 3

1

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

Rachel Myerowitz

Journal:

Year:

1997

Language:

english

File:

PDF, 187 KB

english, 1997

2

A clinical overview of WT1 gene mutations

Melissa Little, Christine Wells

Journal:

Year:

1997

Language:

english

File:

PDF, 250 KB

english, 1997

3

Screening and biochemical characterization of transthyretin variants in the Portuguese population

Isabel L. Alves, Klaus Altland, Maria Rosário Almeida, Pia Winter, Maria João M. Saraiva

Journal:

Year:

1997

Language:

english

File:

PDF, 235 KB

english, 1997

4

Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene

Ruxandra Draghia, Franck Letourneur, Cristina Drugan, Jeanne Manicom, Christophe Blanchot, Axel Kahn, Livia Poenaru, Catherine Caillaud

Journal:

Year:

1997

Language:

english

File:

PDF, 273 KB

english, 1997

5

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Luo Yin, Virginia Barone, Alessandra Bolino, Iacopo Celli, Renata Bocciardi, Barbara Pasini, Isabella Ceccherini, Margherita Lerone, Ulf Kristoffersson, Lars T. Larsson, Josep Maria Casasa

Journal:

Year:

1997

Language:

english

File:

PDF, 179 KB

english, 1997

6

Mutations and DNA diagnoses of classical citrullinemia

Hiroshige Kakinoki, Keiko Kobayashi, Hiroki Terazono, Yukihiro Nagata, Takeyori Saheki

Journal:

Year:

1997

Language:

english

File:

PDF, 250 KB

english, 1997

7

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Liat Drucker, Agi Golan, Debra J. Boles, Khalil El Bedour, Richard L. Proia, Ruth Navon

Journal:

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

8

Quantitative allele-specific PCR: Demonstration of age-associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA

Vincent W. S. Liu, Chunfang Zhang, Anthony W. Linnane, Phillip Nagley

Journal:

Year:

1997

Language:

english

File:

PDF, 167 KB

english, 1997

9

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population

Isabel Rivera, Paula Leandro, Uta Lichter-Konecki, Isabel Tavares de Almeida, Maria Celeste Lechner

Journal:

Year:

1997

Language:

english

File:

PDF, 82 KB

english, 1997

10

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

Nicholas Mavroidis, Joanne Traeger-Synodinos, Emmanuel Kanavakis, Eurydiki Drogari, Nicholas Matsaniotis, Steve E. Humphries, Ian N. M. Day, Christos Kattamis

Journal:

Year:

1997

Language:

english

File:

PDF, 120 KB

english, 1997

11

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative β-ketothiolase deficiency

Toshiyuki Fukao, Xiang-Qian Song, Seiji Yamaguchi, Naomi Kondo, Tadao Orii, Jean-Marie Matthieu, Claude Bachmann, Takashi Hashimoto

Journal:

Year:

1997

Language:

english

File:

PDF, 104 KB

english, 1997

12

Complex trinucleotide repeat polymorphism in the HOX B6 gene

S O'Brien, DA Even, JC Murray

Journal:

Year:

1997

Language:

english

File:

PDF, 74 KB

english, 1997

13

G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP

Ernest Beutler, Beryl Westwood, R van Zwieten, Dirk Roos

Journal:

Year:

1997

Language:

english

File:

PDF, 124 KB

english, 1997

14

Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences

Brendan Marshall, Gloria Isidro, Raquel Carvalhas, Maria Guida Boavida

Journal:

Year:

1997

Language:

english

File:

PDF, 101 KB

english, 1997

15

Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation

Moraima Zelada-Hedman, Anne-Lise Børresen-Dale, Annika Lindblom

Journal:

Year:

1997

Language:

english

File:

PDF, 69 KB

english, 1997

16

Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease

Seri, Marco, Yin, Luo, Barone, Virginia, Bolino, Alessandra, Celli, Iacopo, Bocciardi, Renata, Pasini, Barbara, Ceccherini, Isabella, Lerone, Margherita, Kristoffersson, Ulf, Larsson, Lars T., Casasa,

Journal:

Year:

1997

File:

PDF, 127 KB

1997

17

Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease

Seri, Marco, Yin, Luo, Barone, Virginia, Bolino, Alessandra, Celli, Iacopo, Bocciardi, Renata, Pasini, Barbara, Ceccherini, Isabella, Lerone, Margherita, Kristoffersson, Ulf, Larsson, Lars T., Casasa,

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997