Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)

Human Molecular Genetics

Volumn 6, Issue 4, 1997, Pages 539-549

  Rowe, Peter S N ^a   Oudet, Claudine L ^b   Francis, Fiona ^c   Sinding, Christiane ^d   Pannetier, Solange ^b   Econs, Mike J ^e   Strom, Tim M ^f   Meitinger, Thomas ^f   Garabedian, Michele ^d   David, Albert ^g   Macher, Marie Alice ^h   Questiaux, Elisabeth ⁱ   Popowska, Ewa ^j   Pronicka, Ewa ^j   Read, Andrew P ^k   Mokrzycki, Agnes ^k   Glorieux, Francis H ^l   Drezner, Marc K ^e   Hanauer, Andre ^b   Lehrach, Hans ^c   Goulding, Johnathan N ^a   O'Riordan, Jeffrey L H ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CNRS   (France)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MUNICH   (Germany)

^g Hopital Mere Enfant CHU de Nantes   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ CENTRE HOSPITALIER   (France)

^j CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l SHRINERS HOSPITAL FOR CHILDREN   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; METALLOPROTEINASE; MUTANT PROTEIN; ZINC;

AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CHROMOSOME XP; COMPUTER ANALYSIS; ENZYME ACTIVE SITE; ENZYME STRUCTURE; FAMILY STUDY; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PROTEIN PHOSPHORYLATION; PROTEIN SECONDARY STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; VITAMIN D RESISTANT RICKETS;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CLONING, MOLECULAR; CODON, TERMINATOR; DATABASES, FACTUAL; DNA PRIMERS; DNA, COMPLEMENTARY; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; METALLOENDOPEPTIDASES; MOLECULAR SEQUENCE DATA; MUTATION; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICING; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 8244251430     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.539     Document Type: Article

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