Prenatal diagnosis for inherited skin diseases

Clinics in Dermatology

Volumn 18, Issue 6, 2000, Pages 643-648

  Ashton, Gabrielle H S ^a   Eady, Robin A J ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DETERMINATION; EPIDERMOLYSIS; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FETUS; GENE; HUMAN; INHERITANCE; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT SURVEY; SKIN BIOPSY; SKIN DISEASE;

EID: 0034511750     PISSN: 0738081X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0738-081X(00)00153-X     Document Type: Review

References (28)

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5. Prenatal diagnosis of skin diseases
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7. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence
8. A homozygous nonsense mutation in the α3 chain gene of laminin-5 (LAMA3) in Herlitz junctional epidermolysis bullosa; Prenatal exclusion in a fetus at risk
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11. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
12. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)
13. Revised classification system for inherited epidermolysis bullosa; Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa
14. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene LAMC2 for the γ2 subunit of nicein/kalinin (LAMININ-5)
15. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
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19. Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism
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21. OMIM passes the 1,000-disease-gene mark
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24. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutations in a novel transmembrane protein
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