The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. (Q34564879)

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16 January 2020

title

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America (English)

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16 January 2020

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16 January 2020

Vânia D'Almeida

9

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16 January 2020

Luis Peña-Quintana

11

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16 January 2020

Ignacio Briceño

14

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María L Couce

15

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Susana Balcells

18

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D Grinberg

19

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16 January 2020

author name string

Carla Asteggiano

2

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16 January 2020

Marta Bermudez

3

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16 January 2020

Alfonso Córdoba

4

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Marina Szlago

5

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Carola Grosso

6

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Raquel Dodelson de Kremer

7

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Laura Vilarinho

8

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Mercedes Martínez-Pardo

10

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Jaime Dalmau

12

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Jaime Bernal

13

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Marga Rodés

16

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16 January 2020

Maria Antonia Vilaseca

17

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publication date

15 February 2006

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Journal of Human Genetics

16 January 2020

published in

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16 January 2020

volume

51

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16 January 2020

issue

4

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16 January 2020

page(s)

305-313

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0362-0

16 January 2020

exact match

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High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

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12 December 2020

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

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Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

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High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

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HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

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Birth prevalence of homocystinuria

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A New Statistical Method for Haplotype Reconstruction from Population Data

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Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

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The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

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12 December 2020

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

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12 December 2020

Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online

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12 December 2020

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene

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12 December 2020

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE

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12 December 2020

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

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12 December 2020

Newborn screening for homocystinuria: Irish and world experience

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12 December 2020

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

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12 December 2020

Molecular analysis of homocystinuria in Brazilian patients

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12 December 2020

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6

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12 December 2020

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

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12 December 2020

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

1 reference

12 December 2020

Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations

1 reference

12 December 2020

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype

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12 December 2020

Isolated persistent hypermethioninemia.

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12 December 2020

Molecular defect in a patient with pyridoxine-responsive homocystinuria

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12 December 2020

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

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12 December 2020

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment

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12 December 2020

Cystathionine beta-synthase mutations in homocystinuria

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12 December 2020

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits

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12 December 2020

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

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12 December 2020

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

1 reference

12 December 2020

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

1 reference

12 December 2020