@article{b1bd2896e0b4477aa8c9912389c72161,
title = "DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)",
abstract = "We describe molecular prenatal diagnosis and carrier detection of tyrosinase‐negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA‐based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.",
keywords = "oculocutaneous albinism, prenatal diagnosis, tyrosinase",
author = "Falik‐Borenstein, {Tzipora C.} and Holmes, {Stuart A.} and Zvi Borochowitz and Abi Levin and A. Rosenmann and Spritz, {Richard A.}",
year = "1995",
month = apr,
doi = "10.1002/pd.1970150408",
language = "אנגלית",
volume = "15",
pages = "345--349",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "4",
}