A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene-Reference-Cited by-同舟云学术

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A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

Published:2007-10-07 Issue:3 Volume:73 Page:245-250
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Brun-Heath I,Chabrol E,Fox M,Drexler K,Petit C,Taillandier A,De Mazancourt P,Serre J-L,Mornet E

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00902.x/fullpdf

Reference24 articles.

1. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization;Whyte;Endocr Rev,1994

2. Hypophosphatasia

3. Mammalian Alkaline Phosphatases

4. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene;Mornet;Hum Mutat,2000

5. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken;Pauli;Am J Med Genet,1999

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase;Nature Communications;2023-07-08

2. Neonatal lethal hypophosphatasia;Medicine;2018-11

3. Genetic analysis of adults heterozygous for ALPL mutations;Journal of Bone and Mineral Metabolism;2017-12-13

4. Hypophosphatasia;Diagnostic Imaging: Obstetrics;2016

5. Neurological Symptoms of Hypophosphatasia;Subcellular Biochemistry;2015

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