A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency-a clinical research center study

Journal of Clinical Endocrinology and Metabolism

Volumn 80, Issue 12, 1995, Pages 3591-3595

  Cogan, Joy D ^a   Ramel, Bjorn ^b   Lehto, Markku ^b   Phillips, John ^a   Prince, Mellissa ^a   Blizzard, Robert M ^c   De Ravel, Thomy J L ^d   Brammert, Margareta ^b   Groop, Leif ^b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LUND UNIVERSITY   (Sweden)

^c UNIVERSITY OF VIRGINIA   (United States)

^d UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; GROWTH HORMONE; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GROWTH HORMONE DEFICIENCY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING;

ADULT; ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; DNA RESTRICTION ENZYMES; FEMALE; GENES, DOMINANT; GROWTH HORMONE; HAPLOTYPES; HUMAN; INFANT; MALE; MOLECULAR PROBES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; TRANSCRIPTION, GENETIC;

EID: 0028811675     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.12.8530604     Document Type: Article

References (13)

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