A GENETIC ASSAY OF THREE PATIENTS IN THE SAME FAMILY WITH HOLT-ORAM SYNDROME; A CASE REPORT

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

EBRAHIMZADEH VESAL REZA; HOSSEINI SEYED KIANUSH; REZAKHANLU FERESHTEH; DERAKHSHANDEH PEYKAR PUPAK

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY Year:2013 | Volume:2 | Issue:1 Page(s): 0-0

Download Full-Text

View:

285

Download:

Cites:

Information Journal Paper

Title

A GENETIC ASSAY OF THREE PATIENTS IN THE SAME FAMILY WITH HOLT-ORAM SYNDROME; A CASE REPORT

Author(s)

EBRAHIMZADEH VESAL REZA | HOSSEINI SEYED KIANUSH | REZAKHANLU FERESHTEH | DERAKHSHANDEH PEYKAR PUPAK | Issue Writer Certificate

Keywords

HOLT-ORAM SYNDROME

CONGENITAL HEART MALFORMATION

TBX5 GENE

Abstract

HOLT-ORAM SYNDROME (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and CONGENITAL HEART MALFORMATION. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 GENE. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.

Cites

No record.

References

No record.

Cite

APA: Copy

EBRAHIMZADEH VESAL, REZA, HOSSEINI, SEYED KIANUSH, REZAKHANLU, FERESHTEH, & DERAKHSHANDEH PEYKAR, PUPAK. (2013). A GENETIC ASSAY OF THREE PATIENTS IN THE SAME FAMILY WITH HOLT-ORAM SYNDROME; A CASE REPORT. REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2(1), 0-0. SID. https://sid.ir/paper/343124/en

Vancouver: Copy

EBRAHIMZADEH VESAL REZA, HOSSEINI SEYED KIANUSH, REZAKHANLU FERESHTEH, DERAKHSHANDEH PEYKAR PUPAK. A GENETIC ASSAY OF THREE PATIENTS IN THE SAME FAMILY WITH HOLT-ORAM SYNDROME; A CASE REPORT. REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY[Internet]. 2013;2(1):0-0. Available from: https://sid.ir/paper/343124/en

IEEE: Copy

REZA EBRAHIMZADEH VESAL, SEYED KIANUSH HOSSEINI, FERESHTEH REZAKHANLU, and PUPAK DERAKHSHANDEH PEYKAR, “A GENETIC ASSAY OF THREE PATIENTS IN THE SAME FAMILY WITH HOLT-ORAM SYNDROME; A CASE REPORT,” REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY, vol. 2, no. 1, pp. 0–0, 2013, [Online]. Available: https://sid.ir/paper/343124/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops