Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID

Journal of Pediatric Gastroenterology and Nutrition

Volumn 55, Issue SUPPL.2, 2012, Pages

  Uhrich, Stefanie ^a   Wu, Zaining ^a   Huang, Jie Yu ^a   Scott, C Ronald ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CHILDHOOD DISEASE; CONFERENCE PAPER; CONGENITAL DISORDER; CONGENITAL SUCRASE ISOMALTASE DEFICIENCY; DEHYDRATION; DIARRHEA; EXON; GENE MUTATION; GENETIC SCREENING; GROWTH DISORDER; HUMAN; JEJUNUM BIOPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ALLELES; CARBOHYDRATE METABOLISM, INBORN ERRORS; DIETARY CARBOHYDRATES; DNA; GENETIC TESTING; HUMANS; MUTATION; SUCRASE-ISOMALTASE COMPLEX;

EID: 84868671384     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/01.mpg.0000421408.65257.b5     Document Type: Conference Paper

References (10)

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