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Human Genetics

Volumn 109, Issue 1, 2001, Pages 7-10

Profiles of accepted mutation: From neutrality in a pseudogene to disease-causing mutation on its homologous gene

(4) Martinez Arias R a Mateu, E a Bertranpetit, J a Calafell, F a

a UNIVERSITAT POMPEU FABRA (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; GLUCOSYLCERAMIDASE; NUCLEOTIDE;

AMINO ACID COMPOSITION; ARTICLE; CHROMOSOME PAIRING; COMPARATIVE STUDY; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; EXON; GAUCHER DISEASE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME; HUMAN; METABOLIC DISORDER; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESSURE; PRIORITY JOURNAL; PSEUDOGENE; PURIFICATION; SEQUENCE HOMOLOGY;

BASE COMPOSITION; CPG ISLANDS; DNA; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; SELECTION (GENETICS);

EID: 0034910845 PISSN: 03406717 EISSN: None Source Type: Journal
DOI: 10.1007/s004390100523 Document Type: Article

Times cited : (7)

References (24)

1
- 0031427004
- Distinct haplotype in non-Ashkenazi Gaucher patients with N370 S mutation
- (1997) Blood Cells Mol Dis , vol.23 , pp. 415-416
- Amaral, O.¹ Marcao, A.² Pinto, E.³ Zimran, A.⁴ Miranda, S.M.C.⁵

2
- 0033991967
- Isochores and the evolutionary genomics of vertebrates
- (2000) Gene , vol.241 , pp. 3-17
- Bernardi, G.¹

3
- 0026552015
- Polymorphisms in the human glucocerebrosidase gene
- (1992) Genomics , vol.12 , pp. 795-800
- Beutler, E.¹ West, C.² Gelbart, T.³

4
- 0004143554
- Bios Scientific Publishers, Oxford
- (1999) Human Gene Evolution
- Cooper, D.N.¹

5
- 0022005746
- DNA methylation and CpG suppression
- (1985) Cell Differentiation , vol.17 , pp. 199-205
- Cooper, D.N.¹ Gerber-Huber, S.²

6
- 0024342297
- Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes
- (1989) Hum Genet , vol.83 , pp. 181-188
- Cooper, D.N.¹ Krawczak, M.²

7
- 0025364861
- The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
- (1990) Hum Genet , vol.85 , pp. 55-74
- Cooper, D.N.¹ Krawczak, M.²

8
- 0003681398
- Bios Scientific Publishers, Oxford
- (1993) Human Gene Mutation
- Cooper, D.N.¹ Krawczak, M.²

9
- 0033566367
- Evolution of the HOXB6 intergenic region: Motif conservation at the lateral plate mesoderm (LPM) enhancer element
- (1999) J Exp Zool , vol.285 , pp. 170-176
- Deinard, A.¹ Dorit, R.² Castiglione, C.³ Jiang, Z.⁴ Becker, D.⁵ Ruddle, F.⁶ Schugart, K.⁷ Kidd, K.⁸

10
- 2642707314
- Gene mapping and leader polypeptide sequence of human glucocerebrosidase: Implications for Gaucher disease
- (1985) Proc Natl Acad Sci USA , vol.82 , pp. 7101-7105
- Ginns, E.¹ Choudary, P.V.² Tsuji, S.³ Martin, B.⁴ Stubblefield, B.⁵ Sawyer, J.⁶ Hozier, J.⁷ Barranger, J.⁸

11
- 0028305741
- Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes
- (1994) Hum Genet , vol.93 , pp. 635-638
- Glenn, D.¹ Gelbart, T.² Beutler, E.³

12
- 0020317308
- Patterns of nucleotide substitution in pseudogenes and functional genes
- (1982) J Mol Evol , vol.18 , pp. 360-369
- Gojobori, T.¹ Li, W.-H.² Graur, D.³

13
- 0031053385
- Mitochondrial and nuclear genes present conflicting portraits of human origins
- (1997) Mol Biol Evol , vol.14 , pp. 166-172
- Hey, J.¹

14
- 0024572637
- The human glucocerebrosidase gene and pseudogene: Structure and evolution
- (1989) Genomics , vol.4 , pp. 87-96
- Horowitz, M.¹ Wilder, S.² Horowitz, Z.³ Reiner, O.⁴ Gelbart, T.⁵ Beutler, E.⁶

15
- 0027442325
- Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
- (1993) Am J Hum Genet , vol.53 , pp. 921-930
- Horowitz, M.¹ Tzuri, G.² Eyal, N.³ Berebi, A.⁴ Kolodny, E.H.⁵ Brady, R.O.⁶ Barton, N.W.⁷ Abrahamov, A.⁸ Zimran, A.⁹

16
- 0030569016
- What drives codon choices in human genes?
- (1996) J Mol Biol , vol.262 , pp. 459-472
- Karlin, S.¹ Mrázek, J.²

17
- 0033047657
- Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease
- (1999) Hum Genet , vol.104 , pp. 293-300
- Lau, E.K.¹ Tayebi, N.² Ingraham, L.J.³ Winfield, S.L.⁴ Koprivica, V.⁵ Stone, D.L.⁶ Zimran, A.⁷ Ginns, E.I.⁸ Sidransky, E.⁹

18
- 0021710490
- Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications
- (1984) J Mol Evol , vol.21 , pp. 58-71
- Li, W.-H.¹ Wu, C.-I.² Luo, C.-C.³

19
- 0034837435
- Sequence variability of a human pseudogene
- (2001) Genome Res , vol.11 , pp. 1071-1085
- Martínez-Arias, R.¹ Calafell, F.² Mateu, E.³ Comas, D.⁴ Andrés, A.⁵ Bertranpetit, J.⁶

20
- 0033844505
- The evolution of base composition and phylogenetic inference
- (2000) Trends Ecol Evol , vol.15 , pp. 365-369
- Moores, A.O.¹ Holmes, E.C.²

21
- 0004275709
- Columbia University Press, New York
- (1987) Molecular Evolutionary Genetics
- Nei, M.¹

22
- 0026537668
- Analysis of CpG suppression in methylated and nonmethylated species
- (1992) Proc Natl Acad Sci USA , vol.89 , pp. 957-961
- Schorderet, D.¹ Gartler, S.M.²

23
- 0030725110
- Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: Implications for Gaucher disease
- (1997) Genome Res , vol.7 , pp. 1020-1026
- Winfield, S.L.¹ Tayebi, N.² Martin, B.M.³ Ginns, E.I.⁴ Sidransky, E.⁵

24
- 0025101234
- A glucocerebrosidase fusion gene in Gaucher disease
- (1990) J Clin Invest , vol.85 , pp. 219-222
- Zimran, A.¹ Sorge, J.² Gross, E.³ Kubitz, M.⁴ West, C.⁵ Beutler, E.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.