Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Nature Genetics

Volumn 22, Issue 3, 1999, Pages 291-294

  Braverman, Nancy ^a   Lin, Paul ^a   Moebius, Fabian F ^a   Obie, Cassandra ^a   Moser, Ann ^a   Glossmann, Hartmut ^b   Wilcox, William R ^c   Rimoin, David L ^c   Smith, Moyra ^d   Kratz, Lisa ^a   Kelley, Richard I ^a   Valle, David ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b A 6020   (Austria)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

8 DEHYDROCHOLESTEROL; 8(9) CHOLESTENOL; CHOLESTEROL DERIVATIVE; DELTA8,DELTA7 STEROL ISOMERASE; DNA; ISOMERASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; DNA SEQUENCE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STEROL METABOLISM; X CHROMOSOME DOMINANT INHERITANCE;

ADOLESCENT; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHONDRODYSPLASIA PUNCTATA; DNA; DNA PRIMERS; FEMALE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; STEROID ISOMERASES; X CHROMOSOME;

EID: 0032987971     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/10357     Document Type: Article

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