Two Novel Mutations in the Cystathionine β-synthase Gene of Homocystinuric Patients

Molecular Diagnosis

Volumn 2, Issue 2, 1997, Pages 129-133

  Tsai, Michael Y ^a   Wong, Paul W K ^b   Garg, Uttam ^a   Hanson, Naomi Q ^a   Schwichtenberg, Kerry ^a  

^a UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

^b RUSH UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Direct nucleotide sequencing; Genetic variants; Hyperhomocysteinemia; Single strand conformational polymorphism

Indexed keywords

EID: 0000117424     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1084-8592(97)80019-7     Document Type: Article

References (1)

1. Mudd SH, Levy H, Skovby F: Disorders of transsulfuration. In Scriver CR, Beaudet SL, Sly WS, Valle D: The metabolic basis of inherited disease. McGrawHill, New York, 1989 pp. 693-734