Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients

Three novel mutations

Maria Rita Castro, S. G. Heil, I. Rivera, C. Jakobs, I. Tavares de Almeida, H. J. Blom

Research output: Contribution to journalLetter

3 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)161-163
Number of pages3
JournalClinical Genetics
Volume60
Issue number2
DOIs
StatePublished - Jan 1 2001

Fingerprint

DNA Mutational Analysis
Cystathionine beta-Synthase
Homocystinuria
Portugal
Family Health
Pedigree
Molecular Biology
Mutation
DNA
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Castro, Maria Rita ; Heil, S. G. ; Rivera, I. ; Jakobs, C. ; Tavares de Almeida, I. ; Blom, H. J. / Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients : Three novel mutations. In: Clinical Genetics. 2001 ; Vol. 60, No. 2. pp. 161-163.
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Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients : Three novel mutations. / Castro, Maria Rita; Heil, S. G.; Rivera, I.; Jakobs, C.; Tavares de Almeida, I.; Blom, H. J.

In: Clinical Genetics, Vol. 60, No. 2, 01.01.2001, p. 161-163.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients

T2 - Three novel mutations

AU - Castro, Maria Rita

AU - Heil, S. G.

AU - Rivera, I.

AU - Jakobs, C.

AU - Tavares de Almeida, I.

AU - Blom, H. J.

PY - 2001/1/1

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U2 - 10.1034/j.1399-0004.2001.600212.x

DO - 10.1034/j.1399-0004.2001.600212.x

M3 - Letter

VL - 60

SP - 161

EP - 163

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

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