Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

about

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.Omics in laboratory medicine.An update on laboratory diagnosis of liver inherited diseases.Genetic diseases that predispose to early liver cirrhosis.Festival food coma in cystic fibrosis.

P2860

Q34747403-E4D2E885-FE19-405E-9C81-39208F61DDF2 Q38141078-B57BBE02-EBDA-42A6-AAA2-FF89D039F1FA Q38162187-44461B5E-2E1C-4B9D-86E1-369E9CD3DD5C Q38240870-1E9969F0-2090-4B12-89A7-790DF36A0C31 Q44092636-7690624A-ECDC-401A-972F-8A36440A6BAC

P2860

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

Item

http://www.wikidata.org/entity/Q41369290

description

1997 nî lūn-bûn

@nan

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

1997年论文

@zh

1997年论文

@zh-cn

name

Severe liver impairment in a c ...... zygous for the G542X mutation.

@en

type

Item

label

Severe liver impairment in a c ...... zygous for the G542X mutation.

@en

prefLabel

Severe liver impairment in a c ...... zygous for the G542X mutation.

@en

P1476

Severe liver impairment in a c ...... zygous for the G542X mutation.

@en

P2093

Raia V

http://www.w3.org/2001/XMLSchema#string

Rippa E

http://www.w3.org/2001/XMLSchema#string

Salvatore D

http://www.w3.org/2001/XMLSchema#string

Salvatore F

http://www.w3.org/2001/XMLSchema#string

Sibillo R

http://www.w3.org/2001/XMLSchema#string

de Ritis G

http://www.w3.org/2001/XMLSchema#string

P2860

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Clinical features of cystic fibrosis patients with rare genotypes.

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.

Cystic fibrosis in Bulgaria.

Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

P304

155-158

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Giuseppe Castaldo

P577

1997-03-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

9056552

http://www.w3.org/2001/XMLSchema#string

P921

cystic fibrosis

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

about

P2860

P2860

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921