Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Author:

Sjarif D R,Sinke R J,Duran M,Beemer F A,Kleijer W J,Ploos van Amstel J K,Poll-The B T

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Disorders of glycerol metabolism;McCabe, E.R.,1995

2. Dysmorphic features in patients with complex glycerol kinase deficiency;Scheuerle, A.; Greenberg, F.; McCabe, E.R.,1995

3. Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency;Wise, J.E.; Matalon, R.; Morgan, A.M.; McCabe, E.R.;Am 7 Dis Child,1987

4. Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization;McCabe, E.R.B.; Sadava, D.; Bullen, W.W.; McKelvey, H.A.; Seltzer, W.K.; Rose, C.I.;Jf Inherit Metab Dis,1982

5. Isolation of human Xp2l glycerol kinase gene by positional cloning;Walker, A.P.; Muscatelli, F.; Monaco, A.P.;Hum Mol Genet,1993

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