Preimplantation genetic diagnosis for Niemann-Pick disease type B

Prenatal Diagnosis

Volumn 24, Issue 12, 2004, Pages 943-948

  Hellani, Ali ^a   Schuchman, Edward H ^b   Al Odaib, Ali ^a   Al Aqueel, Aida ^a   Jaroudi, Kamal ^a   Ozand, Pinar ^a   Coskun, Serdar ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Niemann Pick disease; PCR; Preimplantation diagnosis

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; EMBRYO; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SMPD1 GENE;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION DIAGNOSIS; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; SPERM INJECTIONS, INTRACYTOPLASMIC; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 10844294225     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1050     Document Type: Article

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