Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

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Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. | Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

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Đang chuẩn bị liên kết để tải về tài liệu: Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

Two novel clusters of nocardiopsis recovered from haloalkaline environment: Potential resource of multi-advantageous lipases

Development of novel optically active two-canter phase-transfer catalysts for enantioselective synthesis of -amino acid

A novel two step random colored grid process: Graphical password authentication system

Halfa and Cogon: The two novel grasses

Identification of IFITM3 and MGAT1 as novel interaction partners of BRI3 by yeast two-hybrid screening

Spot quantification in two dimensional gel electrophoresis image analysis: Comparison of different approaches and presentation of a novel compound fitting algorithm

Synthesis and cytotoxic activity evaluation of novel derivatives of murrayafoline a

A novel numerical approach for fracture analysis in orthotropic media

Master thesis English teaching methodology: Foreignization and domestication of culture specific items in two Vietnamese translations of the English novel “The wind in the willows”

MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution

Đang chuẩn bị liên kết để tải về tài liệu:
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review