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Update on SLC26A3 mutations in congenital chloride diarrhea

Human mutation, 2011-07, Vol.32 (7), p.715-722

2011

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A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Scientific reports, 2017-10, Vol.7 (1), p.14208-11, Article 14208

2017

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Expression of ion transport-associated proteins in human efferent and epididymal ducts

Reproduction (Cambridge, England), 2007-04, Vol.133 (4), p.775-784

2007

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Oral Butyrate in Treatment of Congenital Chloride Diarrhea

The American journal of gastroenterology, 2008-01, Vol.103 (1), p.252-254

2008

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Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

BMC gastroenterology, 2009-01, Vol.9 (1), p.8-8, Article 8

2009

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The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

Kidney international, 2008-10, Vol.74 (8), p.1085-1093

2008

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Cl-Is Required for HCO3-Entry Necessary for Sperm Capacitation in Guinea Pig : Involvement of a Cl-/HCO3-Exchanger (SLC26A3) and CFTR

Biology of reproduction, 2009, Vol.80 (1), p.115-123

2009

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Disruption of the SLC26A3-mediated anion transport is associated with male subfertility

Fertility and sterility, 2006, Vol.85 (1), p.232-235

2006

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Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Acta Paediatrica, 2012-06, Vol.101 (6), p.e256-e259

2012

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Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

American journal of physiology: Gastrointestinal and liver physiology, 1999-01, Vol.276 (1), p.G185-G192

1999

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Genetics in medicine, 2005-09, Vol.7 (7), p.479-483

2005

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Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1

Biology of reproduction, 2009-01, Vol.80 (1), p.115-123

2009

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Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability

Turkish journal of pediatrics, 2011-03, Vol.53 (2), p.194-198

2011

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Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait

American journal of human genetics, 1998-09, Vol.63 (3), p.760-768

1998

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The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

Histochemistry and cell biology, 2000-04, Vol.113 (4), p.279-286

2000

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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

Nature (London), 1998-01, Vol.391 (6663), p.184-187

1998

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SLC26A3 mutations in congenital chloride diarrhea

Human mutation, 2002-12, Vol.20 (6), p.425-438

2002

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Long‐Term Clinical Outcome in Patients With Congenital Chloride Diarrhea

Journal of pediatric gastroenterology and nutrition, 2006-04, Vol.42 (4), p.369-375

2006

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Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

Oncogene, 1998-02, Vol.16 (5), p.681-684

1998

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Genomic structure of the human congenital chloride diarrhea (CLD) gene

Gene, 1998-07, Vol.214 (1), p.87-93

1998

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SLC26A3 and congenital chloride diarrhoea

Novartis Foundation symposium, 2006, Vol.273, p.74

Höglund, Pia

2006

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Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

The American journal of physiology, 1999-01, Vol.276 (1), p.G7

1999

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Mutations of the Down-regulated in adenoma ( DRA ) gene cause congenital chloride diarrhoea

Nature genetics, 1996-11, Vol.14 (3), p.316-319

1996

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Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.236-244

1997

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A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Nature (London), 1998-01, Vol.391 (6663), p.184-187

1998

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Update on SLC26A3 mutations in congenital chloride diarrhea

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Expression of ion transport-associated proteins in human efferent and epididymal ducts

Oral Butyrate in Treatment of Congenital Chloride Diarrhea

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

Cl-Is Required for HCO3-Entry Necessary for Sperm Capacitation in Guinea Pig : Involvement of a Cl-/HCO3-Exchanger (SLC26A3) and CFTR

Disruption of the SLC26A3-mediated anion transport is associated with male subfertility

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1

Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability

Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

SLC26A3 mutations in congenital chloride diarrhea

Long‐Term Clinical Outcome in Patients With Congenital Chloride Diarrhea

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

Genomic structure of the human congenital chloride diarrhea (CLD) gene

SLC26A3 and congenital chloride diarrhoea

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

Mutations of the Down-regulated in adenoma ( DRA ) gene cause congenital chloride diarrhoea

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

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