X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis

Human Genetics

Volumn 99, Issue 1, 1996, Pages 83-87

  Schwartz, Marianne ^a   Blichfeldt, Susanne ^a   Müller, Jørn ^a  

^a University of Copenhagen   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL DISEASE; ARTICLE; FAMILY STUDY; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GREENLAND; HETEROZYGOTE DETECTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0031060690     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050316     Document Type: Article

References (13)

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