Molecular study of patients with odontohypophosphatasia resulting from missense mutation in <i>ALPL</i>-Reference-Cited by-同舟云学术

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Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL

Published:2024-04-09 Issue: Volume: Page:
ISSN:1354-523X
Container-title:Oral Diseases
language:en
Short-container-title:Oral Diseases

Author:

Yue Haitang¹^ORCID,Cao Haiyan¹,Zhi Yusheng¹,Song Guangtai²^ORCID,Cheng Jing²,He Miao¹^ORCID

Affiliation:

1. State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology Wuhan University Wuhan China

2. Department of Paediatric Dentistry, School and Hospital of Stomatology Wuhan University Wuhan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/odi.14955

Reference22 articles.

1. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy

2. Brief Clinical Report: Hypophosphatasia—Diagnostic Considerations and Treatment Outcomes in an Infant

3. Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

4. Infantile hypophosphatasia: Localization within chromosome region 1p36.1‐34 and prenatal diagnosis using linked DNA markers;Greenberg C. R.;American Journal of Human Genetics,1990

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