Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred

Prenatal Diagnosis

Volumn 30, Issue 5, 2010, Pages 485-486

  Lin, Pengfei ^a   Mao, Fei ^a   Liu, Qiji ^a   Shao, Changshun ^a   Yan, Chuanzhu ^a,b   Gong, Yaoqin ^a  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANDONG UNIVERSITY   (China)

Author keywords

Gene diagnosis; Hereditary spastic paraplegia; Mutation detection; SLC33A1

Indexed keywords

GENOMIC DNA; PROTEIN DERIVATIVE; SLC33A1 PROTEIN; UNCLASSIFIED DRUG;

AMNIOCENTESIS; AMNION FLUID; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHINESE; FAMILY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH RISK PREGNANCY; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT TANDEM REPEAT;

ADULT; AMNIOCENTESIS; CHINA; CHROMOSOME MAPPING; EXONS; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 77951748823     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2485     Document Type: Article

References (5)

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