A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 143-147

  Evans, B A J ^a   Bowen, D J ^a   Smith, P J ^b   Clayton, P E ^c   Gregory, J W ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

New LH receptor mutation

Indexed keywords

LUTEINIZING HORMONE RECEPTOR; MEMBRANE PROTEIN; TESTOSTERONE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENOTYPE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TESTOSTERONE BLOOD LEVEL;

EID: 0030058087     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.143     Document Type: Article

References (21)

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