(Q80448048)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

S Cingöz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

B Ozkan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

H Döneray

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

M Sakizli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

1 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

Journal of Endocrinological Investigation

31 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

285-291

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17556864%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf03346295

31 December 2019

exact match

0 references

cites work

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

1 reference

12 December 2020

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency

1 reference

12 December 2020

Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

1 reference

12 December 2020

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia

1 reference

12 December 2020

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

1 reference

12 December 2020

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews

1 reference

12 December 2020

Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran

1 reference

12 December 2020

Missense mutation in CYP11B1 (CGA[Arg-384]-->GGA[Gly]) causes steroid 11 beta-hydroxylase deficiency

1 reference

12 December 2020

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

1 reference

12 December 2020

Disorders of steroid 11 beta-hydroxylase isozymes

1 reference

12 December 2020

Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

1 reference

12 December 2020

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene

1 reference

12 December 2020