Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

American Journal of Human Genetics

Volumn 84, Issue 2, 2008, Pages 188-196

  Heinz Erian, Peter ^e   Müller, Thomas ^a   Krabichler, Birgit ^a   Schranz, Melanie ^a   Becker, Christian ^b   Rüschendorf, Franz ^c   Nürnberg, Peter ^b   Rossier, Bernard ^d   Booth, Ian W ^e   Holmberg, Christer ^f   Wijmenga, Cisca ^g   Grigelioniene, Giedre ^h   Kneepkens, C M Frank ⁱ   Rosipal, Stefan ^j   Mistrik, Martin ^k   Kappler, Matthias ^l   Michaud, Laurent ^m   Dóczy, Ludwig Christoph ⁿ   Siu, Victoria Mok ^o   Krantz, Marie ^e   Zoller, Heinz ^a   Uterman, Gerd ^a   Janecke, Andreas R ^a   more..

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF COLOGNE   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f Department of Pediatric Gastroenterology ^*  (United Kingdom)

^g UNIVERSITY OF HELSINKI   (Finland)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j UNIVERSITY OF AMSTERDAM   (Netherlands)

^k Pediatric Centre of Preventive Cardiovascular Medicine   (Slovakia)

^l GENERAL HOSPITAL   (Slovakia)

^m UNIVERSITY OF MUNICH   (Germany)

ⁿ UNIV LILLE   (France)

^o UNIVERSITY OF WESTERN ONTARIO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DICLOFENAC; ELECTROLYTE; PROTEIN; SERINE PROTEINASE; SERINE PROTEINASE INHIBITOR; TRYPSIN; MEMBRANE PROTEIN; MESSENGER RNA; SODIUM; SPINT2 PROTEIN, HUMAN; SPINT2 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHOANA ATRESIA; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL SODIUM DIARRHEA; CONTROLLED STUDY; CORNEA EROSION; DIARRHEA; ELECTROLYTE DISTURBANCE; ENTERIC FEEDING; ENZYME ACTIVITY; ENZYME INHIBITION; FAMILY; FEMALE; GENE; GENE MUTATION; GENOME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTELORISM; IN VITRO STUDY; INFANT; LIFE; LOSS OF FUNCTION MUTATION; MALE; MORTALITY; NEWBORN; NUCLEOTIDE SEQUENCE; PARENTERAL NUTRITION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINT2 GENE; SURVIVOR; AMINO ACID SEQUENCE; CHEMISTRY; CHROMOSOME MAP; FECES; GENETICS; MALABSORPTION; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE; SURVIVAL; DISEASE ASSOCIATION; FAMILY STUDY; GENOME ANALYSIS; HIGH RISK PATIENT; LONG TERM CARE; PROTEIN SYNTHESIS INHIBITION; RETROSPECTIVE STUDY; TREATMENT OUTCOME;

AMINO ACID SEQUENCE; ANUS, IMPERFORATE; BASE SEQUENCE; CHROMOSOME MAPPING; COHORT STUDIES; DIARRHEA; DNA MUTATIONAL ANALYSIS; FECES; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALABSORPTION SYNDROMES; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA, MESSENGER; SODIUM; SURVIVAL ANALYSIS;

EID: 62649129318     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.01.004     Document Type: Article

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