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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/3788

Title: 2 distinct mutations at a single bamhi site in phenylketonuria
Authors: Melle, D.
Verelst, P
REY, F
Berthelon, M.
FRANCOIS, Baudouin
MUNNICH, A
LYONNET, S
Issue Date: 1991
Publisher: BRITISH MED JOURNAL PUBL GROUP
Citation: JOURNAL OF MEDICAL GENETICS, 28(1). p. 38-40
Abstract: Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly --> stop and 273ser --> phe, respectively). Both mutations were detected in north eastern France or Belgium and occurred on the background of RFLP haplotype 7 alleles. The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies.
Notes: HOP NECKER ENFANTS MALAD,UNITE RECH HANDICAPS GENET ENFANT,INSERM,U-12,149 RUE SEVRES,F-75743 PARIS 15,FRANCE. DR L WILLEMS INST,B-3610 DIEPENBEEK,BELGIUM.
URI: http://hdl.handle.net/1942/3788
Link to publication: http://jmg.bmj.com/cgi/content/abstract/28/1/38
ISI #: A1991ET10800007
ISSN: 0022-2593
Type: Journal Contribution
Appears in Collections: Research publications

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