Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

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Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.Tall stature: a difficult diagnosis?Genetics and genomic medicine in the Philippines.

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Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

@en

Novel cystathionine β-synthase ...... t with classic homocystinuria.

@nl

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

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Novel cystathionine β-synthase ...... t with classic homocystinuria.

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Catherine Lynn T Silao

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Kahlil Izza D Rama

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Sylvia C Estrada

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Terence Diane F Fabella

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Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

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

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

Molecular analysis of homocystinuria in Brazilian patients.

Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.

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scholarly article

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10.1111/PED.12666

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2015-09-14T00:00:00Z

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25939784

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Eben Piripin

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

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P2860

P2860

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P356

P1433

P1476

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P2860

P304

P31

P356

P433

P478

P577

P698

P921