New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

Human Mutation

Volumn 7, Issue 1, 1996, Pages 79-81

  Pohlenz, Joachim ^a   Schönberger, Winfried ^a   Wemme, Heike ^a   Winterpacht, Andreas ^a   Wirth, Stefan ^a   Zabel, Bernhard ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LIOTHYRONINE; THYROID HORMONE; THYROXINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA DETERMINATION; EXON; FEMALE; HORMONE BINDING; HORMONE RESISTANCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EXONS; FEMALE; GENES, ERBA; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID; THYROID HORMONE RESISTANCE SYNDROME;

EID: 0030045717     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.0.CO;2-P     Document Type: Article

References (14)

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