Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

European Journal of Human Genetics

Volumn 23, Issue 7, 2015, Pages 990-992

  Smith, Amanda ^a   Bulman, Dennis E ^a   Goldsmith, Claire ^a   Bareke, Eric ^b   Majewski, Jacek ^b   Boycott, Kym M ^a   Nikkel, Sarah M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 2C; UNCLASSIFIED DRUG; ATRIAL NATRIURETIC FACTOR RECEPTOR; ENTEROTOXIN RECEPTOR; RECEPTOR;

ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ECHOGENIC BOWEL; ECHOGRAPHY; ENZYME ACTIVE SITE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LEBANESE; LOSS OF FUNCTION MUTATION; MALE; MECONIUM ILEUS; NEWBORN; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; SEROLOGY; TRISOMY 21; AMINO ACID SEQUENCE; COMPLICATION; FAMILY HEALTH; FEMALE; FETUS DISEASE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; ILEUS; LEBANON; MECONIUM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; ECHOGENIC BOWEL; FAMILY HEALTH; FEMALE; FETAL DISEASES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ILEUS; INFANT, NEWBORN; LEBANON; MALE; MECONIUM; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, GUANYLATE CYCLASE-COUPLED; RECEPTORS, PEPTIDE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84930870031     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.236     Document Type: Article

References (8)

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