Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Experimental Dermatology

Volumn 11, Issue 5, 2002, Pages 468-470

  Cserhalmi Friedman, Peter B ^a   Anyane Yeboa, Kwame ^a   Christiano, Angela M ^a  

^a Columbia University ^*  (United States)

Author keywords

Epidermolysis bullosa; Genetic counseling; Germline mosaicism; Prenatal diagnosis

Indexed keywords

DNA; LAMININ; LAMININ BETA3; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME 3; CHROMOSOME 8; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; EXON; FAMILY; FEMALE; FETUS; GENE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC MARKER; GENETIC SCREENING; GERM LINE; HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA; HUMAN; MALE; MICROSATELLITE MARKER; MOSAICISM; MOTHER; NONSENSE MUTATION; PARENT; PREGNANCY; PRENATAL DIAGNOSIS; R635X GENE; SPERM; GENETICS; MUTATION; POINT MUTATION;

EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; GENETIC COUNSELING; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION;

EID: 0036782995     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2002.110511.x     Document Type: Article

References (8)

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