Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene-Reference-Cited by-同舟云学术

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene

Published:1994-08 Issue:2 Volume:125 Page:225-227
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Kaufman Francine Ratner,Reichardt Juergen K.V.,Ng Won G.,Xu Yan-Kang,Manis Franklin R.,McBride-Chang Catherine,Wolff Jon A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Cloning and characterization of cDNA encoding human galactose-1-phosphate uridyl transferase;Reichardt;Molecular Biology Medicine,1988

2. Sequence of cDNA encoding human galactose-1-phosphate uridyl transferase;Flach;Mol Biol Med,1990

3. The human galactose-1-phosphate uridyl transferase gene;Leslie;Genomics,1992

4. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyltransferase;Reichardt;Am J Hum Genet,1991

5. Galactosemia: a molecular approach to the enigma;Elsas;International Pediatrics,1993

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