1997
DOI: 10.1002/(sici)1098-1004(1997)10:1<25::aid-humu4>3.0.co;2-l
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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

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Cited by 33 publications
(28 citation statements)
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“…Cell culturing, enzymatic determination of PTPS activity, Western blot analysis, mutation detection on genomic DNA and on cDNA from RT-PCR products were described previously [Oppliger et al, 1997;Scherer-Oppliger et al, 1999b;Shintaku et al, 1988;Thöny et al, 1994].…”
Section: Biochemical Analyses and Mutation Detectionmentioning
confidence: 72%
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“…Cell culturing, enzymatic determination of PTPS activity, Western blot analysis, mutation detection on genomic DNA and on cDNA from RT-PCR products were described previously [Oppliger et al, 1997;Scherer-Oppliger et al, 1999b;Shintaku et al, 1988;Thöny et al, 1994].…”
Section: Biochemical Analyses and Mutation Detectionmentioning
confidence: 72%
“…On the genomic DNA, the patient was homoallelic for Y99C, as revealed by amplification and DNA sequence analysis of exon 5 (not shown) [Oppliger et al, 1997]. Unexpectedly, the father (III-5) exhibited normal enzyme activity in red blood cells, which was in accordance with the wild type DNA sequence of his PTPS-exon 5.…”
Section: Discussionmentioning
confidence: 99%
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“…About 9% of all PTPS-de®cient patients registered in the international BIODEF database died [8]. Although 33 dierent mutations have been detected [12,27,33,51,52,54], only some have been tested for functionality and in only a few cases data on phenotypegenotype correlation are available [11,38,43]. In this paper we describe new mutations and long-term followup in ®ve PTPS-de®cient patients with various clinical outcomes.…”
Section: Introductionmentioning
confidence: 91%