Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia

Journal of Bone and Mineral Metabolism

Volumn 30, Issue 1, 2012, Pages 109-113

  Chang, Kai Chi ^a   Lin, Po Han ^a,b   Su, Yi Ning ^a   Peng, Steven Shinn Forng ^a   Lee, Ni Chung ^a   Chou, Hung Chieh ^a   Chen, Chien Yi ^a   Hsieh, Wu Shiun ^a   Tsao, Po Nien ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Hypophosphatasia; Mutation; Structure modeling; Tissue nonspecific isoenzyme of alkaline phosphatase

Indexed keywords

ALANINE; ALKALINE PHOSPHATASE; CALCIUM; LYSINE; PARATHYROID HORMONE; PHOSPHATE; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PERINATAL HYPOPHOSPHATASIA; BETA SHEET; CALCIUM BLOOD LEVEL; CASE REPORT; CESAREAN SECTION; DEATH; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; LETAL PERINATAL HYPOPHOSPHATASIA; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; OSSIFICATION; PARATHYROID HORMONE BLOOD LEVEL; PHOSPHATE BLOOD LEVEL; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RESPIRATORY FAILURE; RICKETS; STRUCTURE ANALYSIS; THORAX DEFORMITY; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE GENE;

ALKALINE PHOSPHATASE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 84863391238     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-011-0282-8     Document Type: Article

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