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Volumn 38, Issue 6, 2001, Pages 409-411
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A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree [7]
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Author keywords
[No Author keywords available]
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Indexed keywords
ADOLESCENT;
ADULT;
AGED;
CLINICAL ARTICLE;
HUMAN;
HUMAN CELL;
LETTER;
MALE;
MISSENSE MUTATION;
OSTEOARTHRITIS;
PRIORITY JOURNAL;
SCHOOL CHILD;
SHORT STATURE;
SPONDYLOEPIPHYSEAL DYSPLASIA;
X CHROMOSOME LINKAGE;
ADOLESCENT;
ADULT;
AGE OF ONSET;
AGED;
AMINO ACID SEQUENCE;
CARRIER PROTEINS;
CHILD;
FEMALE;
HETEROZYGOTE;
HUMANS;
LINKAGE (GENETICS);
MALE;
MEMBRANE TRANSPORT PROTEINS;
MIDDLE AGED;
MOLECULAR SEQUENCE DATA;
MUTATION, MISSENSE;
OSTEOCHONDRODYSPLASIAS;
PEDIGREE;
PROTEIN STRUCTURE, SECONDARY;
TRANSCRIPTION FACTORS;
X CHROMOSOME;
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EID: 0034979653
PISSN: 00222593
EISSN: None
Source Type: Journal
DOI: None Document Type: Letter |
Times cited : (17)
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References (11)
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