Further evidence for EpCAM as the gene for congenital tufting enteropathy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 222-224

  Sivagnanam, Mamata ^a,b   Schaible, Tiffany ^c   Szigeti, Reka ^c   Byrd, Robert H ^c   Finegold, Milton J ^c   Ranganathan, Sarangarajan ^d   Gopalakrishna, G S ^c   Tatevian, Nina ^c,e   Kellermayer, Richard ^c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE; GENOMIC DNA; TOLONIUM CHLORIDE;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COLONOSCOPY; CONGENITAL TUFTING ENTEROPATHY; DIARRHEA; DNA DETERMINATION; DNA EXTRACTION; DUODENUM BIOPSY; ENTEROPATHY; FAILURE TO THRIVE; FEMALE; GASTROINTESTINAL BIOPSY; GASTROINTESTINAL ENDOSCOPY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE CRYPT; INTESTINE VILLUS ATROPHY; LETTER; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STOP CODON; TOTAL PARENTERAL NUTRITION; VOMITING; AUTOSOMAL RECESSIVE INHERITANCE; BODY HEIGHT; BODY WEIGHT; ENDOSCOPY; GENE SEQUENCE; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HYPERPLASIA; IMMUNOFLUORESCENCE TEST; PAKISTAN; PROTEIN FUNCTION; VERNER MORRISON SYNDROME;

ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; DIARRHEA; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION;

EID: 75149114144     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33186     Document Type: Letter

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