Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism

European Journal of Endocrinology

Volumn 147, Issue 5, 2002, Pages 597-608

  Gromoll, Jörg ^e   Schulz, Angela ^a   Borta, Heike ^b   Gudermann, Thomas ^b   Teerds, Katja ^c   Greschniok, Annette ^d   Nieschlag, Eberhard ^e   Seif, Fritz J ^d  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c UTRECHT UNIVERSITY   (Netherlands)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e INST OF REPRO MED OF THE UNIV   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; CHORIONIC GONADOTROPIN; CYCLIC AMP; DNA; ESTRADIOL VALERATE; ETHINYLESTRADIOL; FOLLITROPIN; GLYCINE; GUANINE; LUTEINIZING HORMONE RECEPTOR; PHENYLALANINE; THREONINE; THYMINE; THYROXINE;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; BLOOD SAMPLING; CASE REPORT; CELL MATURATION; CONTROLLED STUDY; DELAYED PUBERTY; DNA EXTRACTION; EXON; FEMALE; GENE AMPLIFICATION; GENE FUNCTION; GENE MUTATION; GENETIC TRANSFECTION; GONAD; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; INGUINAL CANAL; LEYDIG CELL; MALE PSEUDOHERMAPHRODITISM; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; OVARY DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN MOTIF; SEQUENCE ANALYSIS; SEXUAL DEVELOPMENT; SINGLE STRAND CONFORMATION POLYMORPHISM; SPERMATOGENESIS; STEM CELL;

EID: 0036854403     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1470597     Document Type: Article

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