Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation-Reference-Cited by-同舟云学术

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

Published:1991-05 Issue:7 Volume:150 Page:493-497
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Superti-Furga A.,Steinmann B.,Duc G.,Gitzelmann R.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF01958431.pdf

Reference24 articles.

1. Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936–939

2. Brenton DP, Haseler ME (1990) Maternal phenylketonuria. In: Fernandes J, Saudubray JM, Tada K (eds) Inborn metabolic diseases — diagnosis and treatment. Springer, Berlin Heidelberg New York, pp 175–182

3. Cotton RGH (1990) Heterogeneity of phenylketonuria at the clinical, protein and DNA level. J Inherited Metab Dis 13: 739–750

4. DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25:743–749

5. DiLella AG, Marvit J, Lidsky AS, Güttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803

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