Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping (Q28138516)
scientific article (publication date: December 1999)
Language:
Current Data About Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
(P31) (Q13442814)

(P304) 543-4

(P407) (Q1860)

(P433) 6

(P478) 14

(P577) +1999-12-00T00:00:00Z

(P1433) (Q5937269)

(P1476) "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping" (language: en)

(P2093) S Vuillaumier-Barrot
(P1545) 1

A Barnier
(P1545) 2

M Cuer
(P1545) 3

G Durand
(P1545) 4

B Grandchamp
(P1545) 5

N Seta
(P1545) 6

other details
description scientific article (publication date: December 1999)

External Links
(P356) 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S
(P698) 10571956