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

Sheela Nampoothiri; Jeanne Maria Dsouza; Dhanya Yesodharan; Katta M. Girisha; Malini Eapen; Sajitha Sivasankaran Nair; Bhanu Vikraman Pillai; Periyasamy Radhakrishnan

doi:10.1111/cge.14263

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

Sheela Nampoothiri, Jeanne Maria Dsouza, Dhanya Yesodharan, Katta M. Girisha, Malini Eapen, Sajitha Sivasankaran Nair, Bhanu Vikraman Pillai, Periyasamy Radhakrishnan^*

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	369 - 370
Number of pages	2
Journal	Clinical Genetics
Volume	103
Issue number	3
DOIs	https://doi.org/10.1111/cge.14263
Publication status	Published - 03-2023

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1111/cge.14263

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Nampoothiri, S., Dsouza, J. M., Yesodharan, D., Girisha, K. M., Eapen, M., Sivasankaran Nair, S., Pillai, B. V., & Radhakrishnan, P. (2023). A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies. Clinical Genetics, 103(3), 369 - 370. https://doi.org/10.1111/cge.14263

@article{56dbed61d3f44989ab98de5e580dda2e,

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

author = "Sheela Nampoothiri and Dsouza, \{Jeanne Maria\} and Dhanya Yesodharan and Girisha, \{Katta M.\} and Malini Eapen and \{Sivasankaran Nair\}, Sajitha and Pillai, \{Bhanu Vikraman\} and Periyasamy Radhakrishnan",

note = "Funding Information: We thank the members of the family who have participated in this study.",

year = "2023",

month = mar,

doi = "10.1111/cge.14263",

language = "English",

volume = "103",

pages = "369 -- 370",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "3",

}

Nampoothiri, S, Dsouza, JM, Yesodharan, D, Girisha, KM, Eapen, M, Sivasankaran Nair, S, Pillai, BV & Radhakrishnan, P 2023, 'A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies', Clinical Genetics, vol. 103, no. 3, pp. 369 - 370. https://doi.org/10.1111/cge.14263

TY - JOUR

T1 - A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies

AU - Nampoothiri, Sheela

AU - Dsouza, Jeanne Maria

AU - Yesodharan, Dhanya

AU - Girisha, Katta M.

AU - Eapen, Malini

AU - Sivasankaran Nair, Sajitha

AU - Pillai, Bhanu Vikraman

AU - Radhakrishnan, Periyasamy

N1 - Funding Information: We thank the members of the family who have participated in this study.

PY - 2023/3

Y1 - 2023/3

UR - https://www.scopus.com/pages/publications/85142885955

UR - https://www.scopus.com/inward/citedby.url?scp=85142885955&partnerID=8YFLogxK

U2 - 10.1111/cge.14263

DO - 10.1111/cge.14263

M3 - Letter

C2 - 36349822

AN - SCOPUS:85142885955

SN - 0009-9163

VL - 103

SP - 369

EP - 370

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

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

All Science Journal Classification (ASJC) codes

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