[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].

Zhonghua er ke za zhi. Chinese journal of pediatrics

Volumn 51, Issue 6, 2013, Pages 414-419

  Ye, Jun ^a   Lei, Hong lin ^b   Zhang, Hui wen ^b   Qiu, Wen juan ^b   Han, Lian shu ^b   Wang, Y ^b   Li, Xiao yan ^b   Gu, Xue fan ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; MALE; METABOLISM; MISSENSE MUTATION; MORQUIO SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN CONFORMATION;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION;

EID: 84895849191     PISSN: 05781310     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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