Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

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Aral B, Coude M, London J, Aupetit J, Chasse JF, Zabot MT, Chadefaux-Vekemans B, Kamoun P

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Hum Mutat. 1997;9(1):81-2.

PubMed ID
8990018 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
Cystathionine beta-synthaseP35520Details