A bi‐allelic missense change c. <scp>638A</scp> > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies-Reference-Cited by-同舟云学术

A bi‐allelic missense change c. 638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies

Published:2022-11-28 Issue:3 Volume:103 Page:369-370
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Nampoothiri Sheela¹^ORCID,Dsouza Jeanne Maria²,Yesodharan Dhanya¹,Girisha Katta M.³⁴^ORCID,Eapen Malini⁵,Sivasankaran Nair Sajitha⁶,Pillai Bhanu Vikraman⁷,Radhakrishnan Periyasamy⁴⁸^ORCID

Affiliation:

1. Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Centre Cochin India

2. Kasturba Medical College Manipal Academy of Higher Education Manipal India

3. Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education Manipal India

4. Suma Genomics Private Limited Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education Manipal India

5. Department of Pathology Amrita Institute of Medical Sciences and Research Centre Cochin India

6. Department of General Pediatrics Amrita Institute of Medical Sciences and Research Centre Cochin India

7. Department of Gastroenterology and Hepatology Amrita Institute of Medical Sciences and Research Centre Cochin India

8. Division of Reproductive Genetics, Department of Reproductive Science Kasturba Medical College, Manipal Academy of Higher Education Manipal India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14263

Reference3 articles.

1. Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

2. Biochemical and Biological Attributes of Matrix Metalloproteinases

3. Functional roles of MMP14 and MMP15 in early postnatal mammary gland development;Feinberg TY;Dev Camb Engl,2016