(Q33401978)

26 July 2017

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

1 reference

26 July 2017

0 references

Irma Järvelä

8

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author name string

Suvi Torniainen

1

1 reference

26 July 2017

Roberta Freddara

2

1 reference

26 July 2017

Taina Routi

3

1 reference

26 July 2017

Carolien Gijsbers

4

1 reference

26 July 2017

Carlo Catassi

5

1 reference

26 July 2017

Pia Höglund

6

1 reference

26 July 2017

Erkki Savilahti

7

1 reference

26 July 2017

22 January 2009

1 reference

26 July 2017

1 reference

26 July 2017

9

1 reference

26 July 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-230x-9-8

26 July 2017

0 references

cites work

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

A genetic test which can be used to diagnose adult-type hypolactasia in children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Defective lactose absorption causing malnutrition in infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

PANTHER: a library of protein families and subfamilies indexed by function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Human non-synonymous SNPs: server and survey

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

The pro region of human intestinal lactase-phlorizin hydrolase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Congenital lactase deficiency. A clinical study on 16 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Complete deficiency of brush-border lactase in congenital lactose malabsorption.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635369

Transcriptional downregulation of the lactase (LCT) gene during childhood.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-230X-9-8

Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19161632

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assay of intestinal disaccharidases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19161632

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-230X-9-8

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference