INACTIVATION OF PHENYLALANINE-HYDROXYLASE BY A MISSENSE MUTATION, R270S, IN A PALESTINIAN KINSHIP WITH PHENYLKETONURIA

被引:5
|
作者
KLEIMAN, S
LI, J
SCHWARTZ, G
EISENSMITH, RC
WOO, SLC
SHILOH, Y
机构
[1] TEL AVIV UNIV,SACKLER SCH MED,DEPT HUMAN GENET,IL-69978 TEL AVIV,ISRAEL
[2] BAYLOR COLL MED,HOWARD HUGHES MED INST,DEPT CELL BIOL,HOUSTON,TX 77030
[3] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
[4] CHAIM SHEBA MED CTR,CTR CHILD DEV,IL-52621 TEL HASHOMER,ISRAEL
关键词
D O I
10.1093/hmg/2.5.605
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:605 / 606
页数:2
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