Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets

American Journal of Human Genetics

Volumn 60, Issue 4, 1997, Pages 790-797

  Holm, Ingrid A ^a   Huang, Xin ^a   Kunkel, Louis M ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; CLINICAL ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ORGANIZATION; HUMAN; HYPOPHOSPHATEMIA; MALE; OPEN READING FRAME; PHOSPHATE TRANSPORT; PRIORITY JOURNAL; RICKETS; VITAMIN D METABOLISM; X CHROMOSOME LINKAGE;

ADULT; ASPARTIC ENDOPEPTIDASES; BIOLOGICAL TRANSPORT; CLONING, MOLECULAR; CYTOGENETICS; EXONS; FEMALE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; INTRONS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MIDDLE AGED; MUTATION; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHATES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; X CHROMOSOME;

EID: 0030964935     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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