Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia [4]

Rheumatology

Volumn 46, Issue 6, 2007, Pages 1037-1040

  Peach, Cris A ^a,b   Zhang, Y ^a   Wordsworth, B P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CREATININE; GENOMIC DNA; HISTIDINE; PHOSPHOETHANOLAMINE; PROLINE; PROTEIN TNAP; SERINE; THREONINE; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; BONE BOWING; BONE DENSITY; CASE REPORT; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOPHOSPHATASIA; LETTER; MALE; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; OSTEOPENIA; PATHOLOGIC FRACTURE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETON MALFORMATION; UNTRANSLATED REGION; URINALYSIS;

ADOLESCENT; ALKALINE PHOSPHATASE; BASE SEQUENCE; FEMALE; HUMANS; HYPOPHOSPHATASIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 34447336089     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kem043     Document Type: Letter

References (14)

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