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

Human Mutation

Volumn 9, Issue 1, 1997, Pages 81-82

  Aral, Bernard ^a   Coudé, Marie ^a   London, Jacqueline ^a   Aupetit, Joelle ^a   Chassé, Jean François ^a   Zabot, Marie Thérèse ^b   Chadefaux Vekemans, Bernadette ^a   Kamoun, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE;

ARTICLE; CASE REPORT; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; FRANCE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CELLS, CULTURED; CYSTATHIONINE BETA-SYNTHASE; FIBROBLASTS; FRANCE; HOMOCYSTINURIA; HUMANS; MUTATION; PYRIDOXINE;

EID: 0031029513     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L     Document Type: Article

References (6)

1. Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih V (1993) Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive homocystinuria. Hum Mol Genet 2:1857-1860.
2. Kozich V, Kraus JP (1992). Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β-synthase deficiency. Hum Mutat 1:113-123.
3. Kraus JP, Le K, Swaroop M, Ohura T, Tahara T, Rosenber LE (1993) Human cystathionine beta-synthase cDNA sequence, alternative splicing and expression in cultured cells. Hum Mol Genet 2:1633-1638.
4. Kraus JP (1994) Molecular basis of phenotype expression in homocystinuria. J Inner Metab Dis 17:383-390.
5. Kruger WD, Cox DR (1994) A yeast system for expression of human cystathionine β-synthase: Structural and functional conservation of the human and yeast genes. Proc Natl Acad Sci USA 91:6614-6618.
6. Mudd SH, Levy HL, Skovby F (1989) Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Diseases. 6th Ed. New York: McGraw-hill, pp 693-734.