Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

Irma DIANZANI; Sanctis L de; PM Smooker; TJ Gough; C Alliaudi; A Brusco; M Spada; N Blau; M Dobos; HP Zhang; N Yang; A Ponzone; WLF Armarego; RGH Cotton

doi:10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

Irma DIANZANI
, Sanctis L de
, PM Smooker
, TJ Gough
, C Alliaudi
, A Brusco
, M Spada
, N Blau
, M Dobos
, HP Zhang
, N Yang
, A Ponzone
, WLF Armarego
, RGH Cotton

Department of Health Sciences

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	267-273
Number of pages	7
Journal	Human Mutation
Volume	12
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0
Publication status	Published - 1 Jan 1998

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10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

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DIANZANI, I., de, S. L., Smooker, PM., Gough, TJ., Alliaudi, C., Brusco, A., Spada, M., Blau, N., Dobos, M., Zhang, HP., Yang, N., Ponzone, A., Armarego, WLF., & Cotton, RGH. (1998). Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Human Mutation, 12(4), 267-273. https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

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title = "Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations",

author = "Irma DIANZANI and de, \{Sanctis L\} and PM Smooker and TJ Gough and C Alliaudi and A Brusco and M Spada and N Blau and M Dobos and HP Zhang and N Yang and A Ponzone and WLF Armarego and RGH Cotton",

year = "1998",

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doi = "10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0",

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DIANZANI, I, de, SL, Smooker, PM, Gough, TJ, Alliaudi, C, Brusco, A, Spada, M, Blau, N, Dobos, M, Zhang, HP, Yang, N, Ponzone, A, Armarego, WLF & Cotton, RGH 1998, 'Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations', Human Mutation, vol. 12, no. 4, pp. 267-273. https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

TY - JOUR

T1 - Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

AU - DIANZANI, Irma

AU - de, Sanctis L

AU - Smooker, PM

AU - Gough, TJ

AU - Alliaudi, C

AU - Brusco, A

AU - Spada, M

AU - Blau, N

AU - Dobos, M

AU - Zhang, HP

AU - Yang, N

AU - Ponzone, A

AU - Armarego, WLF

AU - Cotton, RGH

PY - 1998/1/1

Y1 - 1998/1/1

UR - https://iris.uniupo.it/handle/11579/10353

U2 - 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

DO - 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0

M3 - Article

SN - 1059-7794

VL - 12

SP - 267

EP - 273

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

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