Figure 1
![Figure 1. Identification of a novel D156Y PCFT mutation in a subject with HFM and its expression as well as transport function. (A) A chromatogram showing a homozygous mutation in the PCFT gene in a subject with HFM. (B) [3H]-MTX (0.5μM) influx over 1 minute at pH 5.5 and 37°C in Hela-R1-11 cells transiently transfected with wild-type PCFT, D156Y-PCFT, or the vector (mock). (C) Western blot analysis of cells transiently transfected with wild-type PCFT, the D156Y mutant, or vector: crude cell membrane fraction (left); biotinylated protein at the cell surface (right). Vertical lines have been inserted to indicate repositioned gel lanes.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/116/24/10.1182_blood-2010-06-291237/4/zh89991061410001.jpeg?Expires=1724917620&Signature=JraUsAX7as9J5fbiM1ENTz0KEWFmzefePKNKDsWJ29c3Q4g2Ba0su-gpk6iw3uQIJyzb69KQBYiSlXxCWuI5Up8v66Yp~LEiKRmV7K13L5mu96UtDA3PMwXjA29q8se7daRXVmin4E6vIoMhGZ1tzaPMf2Lx8z-sxWvmNCf0Ia0fKL7ej9PLw0~a38qQTCOw50~PeZupCKWA8g1wfbWZGLjIFovvb9hPdKo8dslHd1eAB5SWuHxmrUEGL06NXrtc4EjUwN1O2x-1pdOv0fOtJdmp~IxvvyFekWnMo~9pmox9xOQIOLnJy7Q0gP7lnX0PJwxOrsuIkXGdjFxwW3Leqw__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
Identification of a novel D156Y PCFT mutation in a subject with HFM and its expression as well as transport function. (A) A chromatogram showing a homozygous mutation in the PCFT gene in a subject with HFM. (B) [3H]-MTX (0.5μM) influx over 1 minute at pH 5.5 and 37°C in Hela-R1-11 cells transiently transfected with wild-type PCFT, D156Y-PCFT, or the vector (mock). (C) Western blot analysis of cells transiently transfected with wild-type PCFT, the D156Y mutant, or vector: crude cell membrane fraction (left); biotinylated protein at the cell surface (right). Vertical lines have been inserted to indicate repositioned gel lanes.
