Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele

Prenatal Diagnosis

Volumn 21, Issue 3, 2001, Pages 200-201

  Hsieh, Yao Yuan ^a   Wu, Jer Yuarn ^a   Chang, Chi Chen ^a   Tsai, Fuu Jen ^a   Lee, Cheng Chun ^a   Tsai, Horng Der ^a   Tsai, Chang Hai ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Oculocutaneous albinism; Prenatal diagnosis

Indexed keywords

ADULT; ALLELE; AMNIOCENTESIS; ARTICLE; CASE REPORT; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; MISSENSE MUTATION; OCULOCUTANEOUS ALBINISM; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEGREGATION ANALYSIS;

ADULT; ALBINISM, OCULOCUTANEOUS; ALLELES; FEMALE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035062932     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200103)21:3<200::AID-PD31>3.0.CO;2-J     Document Type: Article

References (10)

1. Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin
2. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel
3. Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses
4. Biochemistry of melanin formation
5. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene
6. Prenatal diagnosis of oculocutaneous albinism type I: Review and personal experience
7. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
8. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
9. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)
10. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan