Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia-Reference-Cited by-同舟云学术

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Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia

Published:2017-08 Issue:10 Volume:173 Page:2747-2752
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Porntaveetus Thantrira¹,Srichomthong Chalurmpon²³,Suphapeetiporn Kanya²³^ORCID,Shotelersuk Vorasuk²³

Affiliation:

1. Craniofacial Genetics and Stem Cells Research Group, Faculty of Dentistry, Department of PhysiologyChulalongkorn UniversityBangkokThailand

2. Center of Excellence for Medical Genetics, Faculty of Medicine, Department of PediatricsChulalongkorn UniversityBangkokThailand

3. Excellence Center for Medical Genetics, King Chulalongkorn Memorial HospitalThe Thai Red Cross SocietyBangkokThailand

Funder

Thailand Research Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38370

Reference18 articles.

1. A method and server for predicting damaging missense mutations

2. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

3. Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

4. Disulfide bonds as switches for protein function

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