Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Gastroenterology

Volumn 138, Issue 7, 2010, Pages

  Hartley, Jane Louise ^a,c   Zachos, Nicholas C ^d   Dawood, Ban ^b   Donowitz, Mark ^d   Forman, Julia ^e   Pollitt, Rodney J ^f   Morgan, Neil V ^a   Tee, Louise ^a   Gissen, Paul ^a,c   Kahr, Walter H A ^g,h   Knisely, Alex S ⁱ   Watson, Steve ^b   Chitayat, David ^g,j   Booth, Ian W ^a   Protheroe, Sue ^c   Murphy, Stephen ^a   de Vries, Esther ^k   Kelly, Deirdre A ^c   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d Hopkins Sleep Disorders Center   (United States)

^e INSTITUT PASTEUR   (France)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h Hospital for Sick Children   (United Kingdom)

ⁱ KING S COLLEGE HOSPITAL   (United Kingdom)

^j MOUNT SINAI HOSPITAL   (United States)

^k JEROEN BOSCH HOSPITAL   (Netherlands)

more..

Author keywords

Ion Transporter Proteins; Phenotypic Diarrhea of Infancy; Platelet Alpha Granules; Thespin

Indexed keywords

AQUAPORIN 7; CELL PROTEIN; CHAPERONE; HYDROGEN POTASSIUM ADENOSINE TRIPHOSPHATASE; SODIUM IODIDE SYMPORTER; SODIUM PROTON EXCHANGE PROTEIN 2; SODIUM PROTON EXCHANGE PROTEIN 3; THESPIN; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASOLATERAL MEMBRANE; BIOINFORMATICS; CHILD; CHROMOSOME 5P; CHROMOSOME 5Q; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE BRUSH BORDER; INTESTINE EPITHELIUM CELL; LINKAGE ANALYSIS; LIVER CELL; LIVER PARENCHYMA; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PROTEIN SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; TETRATRICOPEPTIDE REPEAT; THROMBOCYTE DISORDER; TRICHOHEPATOENTERIC SYNDROME;

EID: 77952855204     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.02.010     Document Type: Article

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