Four novel mutations in the cystathionine β-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype

• 作者Raffaella de Franchis; Eva Kraus; Viktor Kozich; Gianfranco Sebastio; Jan P. Kraus
• 卷第13卷
• 期第6期
• 印刷ISSN1059-7794
• 电子ISSN1098-1004
• 文件大小231.14KB
• 发表时间1999
• DOI10.1002/(sici)1098-1004(1999)13:6<453::aid-humu4>3.0.co;2-k
• 页码453-457