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

Clinical Genetics

Volumn 87, Issue 3, 2015, Pages 296-298

  Vincent, J B ^a,b,c   Jamil, T ^d   Rafiq, M A ^a   Anwar, Z ^d   Ayaz, M ^e   Hameed, A ^f   Nasr, T ^g   Naeem, F ^e,h   Khattak, N A ⁱ   Carter, M ^j   Ahmed, I ^a,k   John, P ^l   Wiame, E ^m   Andrade, D M ^c,l   Schaftingen, E V ^m   Mir, A ^d   Ayub, M ^e,h  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d INTERNATIONAL ISLAMIC UNIVERSITY   (Pakistan)

^e Lahore Institute of Research and Development   (Pakistan)

^f INSTITUTE OF BIOMEDICAL AND GENETIC ENGINEERING IBGE   (Pakistan)

^g MAYO HOSPITAL   (Pakistan)

^h QUEEN S UNIVERSITY   (Canada)

ⁱ PMAS ARID AGRICULTURE UNIVERSITY   (Pakistan)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k NATIONAL UNIVERSITY OF SCIENCES AND TECHNOLOGY   (Pakistan)

^l UNIVERSITY HEALTH NETWORK   (Canada)

^m DE DUVE INSTITUTE   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; ALANINE; ASPARTIC ACID; DNA; GLYCINE; MUTANT PROTEIN; PHOSPHATASE; PHOSPHOSERINE; PHOSPHOSERINE PHOSPHATASE; SERINE; THREONINE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; BRAIN ATROPHY; CLINICAL FEATURE; COMPARATIVE STUDY; DIET SUPPLEMENTATION; ENZYME ANALYSIS; EPILEPSY; FAMILY ASSESSMENT; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MICROCEPHALY; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE; WILD TYPE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; FAMILY; GENETICS; INTELLECTUAL DISABILITY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PAKISTAN; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84922691443     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12445     Document Type: Letter

References (8)

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