Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Journal of Medical Genetics

Volumn 53, Issue 2, 2016, Pages 138-144

  Rafiullah, Rafiullah ^a,b   Aslamkhan, Muhammad ^b   Paramasivam, Nagarajan ^c,d   Thiel, Christian ^a   Mustafa, Ghulam ^e,f   Wiemann, Stefan ^c   Schlesner, Matthias ^d   Wade, Rebecca C ^e,f   Rappold, Gudrun A ^a   Berkel, Simone ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e HEIDELBERG INSTITUTE FOR THEORETICAL STUDIES   (Germany)

^f GERMAN CANCER RESEARCH CENTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; GENOMIC DNA; MANNOSE BINDING LECTIN 2; CARRIER PROTEIN; LECTIN; LMAN2L PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INTELLECTUAL IMPAIRMENT; CHILD; CHROMOSOME 2; COMPUTER MODEL; CONTROLLED STUDY; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; EXOME; FEMALE; GENE FREQUENCY; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GLYCOPROTEIN SYNTHESIS; GLYCOSYLATION; HOMOZYGOSITY; HUMAN; INFANTILE EPILEPTIC SEIZURE; ISOELECTRIC FOCUSING; MALE; MISSENSE MUTATION; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; PROTEIN TRANSPORT; SCHOOL CHILD; SEIZURE; YOUNG ADULT; CHEMISTRY; CONSANGUINITY; EPILEPSY; GENETICS; HOMOZYGOTE; INTELLECTUAL IMPAIRMENT; METABOLISM; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE;

CHILD, PRESCHOOL; CONSANGUINITY; EPILEPSY; EXOME; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LECTINS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; PAKISTAN; PEDIGREE;

EID: 84958969418     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103179     Document Type: Article

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