IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER

MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E

G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006

NO

Genetics & Heredity",Biology

European journal of human genetics → ACNP

10184813

6

1998

1

5006 - 5006

ISI

1018-4813(1998)6:<5006:IOTGIA>2.0.ZU;2-K