Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

Journal of Medical Genetics

Volumn 52, Issue 5, 2015, Pages 322-329

  Shaheen, Ranad ^a   Hashem, Amal Al ^b,c   Alghamdi, Mohammed H ^d   Seidahmad, Mohammed Zain ^e   Wakil, Salma M ^a   Dagriri, Khalid ^f   Keavney, Bernard ^g   Goodship, Judith ^h   Alyousif, Saad ^e   Al Habshan, Fahad M ⁱ   Alhussein, Khalid ^e   Almoisheer, Agaadir ^a   Ibrahim, Niema ^a   Alkuraya, Fowzan S ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e SECURITY FORCES HOSPITAL   (Saudi Arabia)

^f PRINCE SULTAN CARDIAC CENTER   (Saudi Arabia)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE INDUCED MATURATION PROTEIN 1; NRP1 PROTEIN; PHOSPHOTRANSFERASE; PRKD1 PROTEIN; RECEPTOR; UNCLASSIFIED DRUG; NEUROPILIN 1; PRDM1 PROTEIN, HUMAN; PROTEIN KINASE C; PROTEIN KINASE D; REPRESSOR PROTEIN;

ADOLESCENT; ARTERIAL TRUNK; ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CHROMOSOME REPLICATION; CLINICAL ARTICLE; COHORT ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; EXOME; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; KARYOTYPING; MONOGENIC DISORDER; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SAUDI; SCHOOL CHILD; CASE REPORT; CHROMOSOME MAP; ECHOCARDIOGRAPHY; FATALITY; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; INFANT; MALE; MUTATION; NEWBORN; PEDIGREE; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRUNCUS ARTERIOSUS, PERSISTENT;

CHILD; CHROMOSOME MAPPING; CONSANGUINITY; ECHOCARDIOGRAPHY; EXOME; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEUROPILIN-1; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN KINASE C; REPRESSOR PROTEINS; TRUNCUS ARTERIOSUS, PERSISTENT;

EID: 84930651295     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-102992     Document Type: Article

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