Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy-Reference-Cited by-同舟云学术

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Published:2014-12 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Almoguera Berta,He Sijie,Corton Marta,Fernandez-San Jose Patricia,Blanco-Kelly Fiona,López-Molina Maria Isabel,García-Sandoval Blanca,del Val Javier,Guo Yiran,Tian Lifeng,Liu Xuanzhu,Guan Liping,Torres Rosa J,Puig Juan G,Hakonarson Hakon,Xu Xun,Keating Brendan,Ayuso Carmen

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0190-9.pdf

Reference38 articles.

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2. Taira M, Ishijima S, Kita K, Yamada K, Iizasa T, Tatibana M: Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase. J Biol Chem. 1987, 262 (31): 14867-14870.

3. de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H: Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007, 81 (3): 507-518. 10.1086/520706.

4. Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007, 81 (3): 552-558. 10.1086/519529.

5. Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H: Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet. 2010, 86 (1): 65-71. 10.1016/j.ajhg.2009.11.015.

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