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Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

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Vincent, J B Jamil, T Rafiq, M A Anwar, Z Ayaz, M Wiame, Elsa [UCL] Van Schaftingen, Emile [UCL] Ayub, M
Document type Article de périodique (Journal article) – Lettre à l'éditeur
Access type Accès restreint
Publication date 2015
Language Anglais
Journal information "Clinical Genetics : an international journal of genetics and molecular medicine" - Vol. 87, no.3, p. 296-298 (2015)
Peer reviewed yes
Publisher Wiley-Blackwell Publishing, Inc. ((Denmark) Copenhagen)
issn 0009-9163
e-issn 1399-0004
Publication status Publié
Affiliation UCL - SSS/DDUV - Institut de Duve
MESH Subject Comparative Genomic Hybridization ; Phosphoric Monoester Hydrolases ; Consanguinity ; DNA Mutational Analysis ; Family ; Humans ; Intellectual Disability ; Mutation ; Pakistan ; Pedigree
Links
  1. Tabatabaie L., Klomp L.W., Berger R., de Koning T.J., l-Serine synthesis in the central nervous system: A review on serine deficiency disorders, 10.1016/j.ymgme.2009.10.012
  2. Wade Lester A., Brady Helen M., Cysteine and Cystine Transport at the Blood-Brain Barrier, 10.1111/j.1471-4159.1982.tb12548.x
  3. Wolosker H., Blackshaw S., Snyder S. H., Serine racemase: A glial enzyme synthesizing D-serine to regulate glutamate-N-methyl-D-aspartate neurotransmission, 10.1073/pnas.96.23.13409
  4. Wolosker H., D-Serine Regulation of NMDA Receptor Activity, 10.1126/stke.3562006pe41
  5. Jaeken J, Detheux M, Fryns J P, Collet J F, Alliet P, Van Schaftingen E, Phosphoserine phosphatase deficiency in a patient with Williams syndrome., 10.1136/jmg.34.7.594
  6. Veiga-da-Cunha Maria, Collet Jean-François, Prieur Benoît, Jaeken Jaak, Peeraer Yves, Rabbijns Anja, Van Schaftingen Emile, Mutations responsible for 3-phosphoserine phosphatase deficiency, 10.1038/sj.ejhg.5201083
  7. González-Pérez Abel, López-Bigas Nuria, Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel, 10.1016/j.ajhg.2011.03.004
  8. Collet Jean-François, Gerin Isabelle, Rider Mark H, Veiga-da-Cunha Maria, Van Schaftingen Emile, Humanl-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate, 10.1016/s0014-5793(97)00438-9
Bibliographic reference Vincent, J B ; Jamil, T ; Rafiq, M A ; Anwar, Z ; Ayaz, M ; et. al. Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.. In: Clinical Genetics : an international journal of genetics and molecular medicine, Vol. 87, no.3, p. 296-298 (2015)
Permanent URL http://hdl.handle.net/2078.1/175635