Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

about

X linked mental retardation: a clinical guide.Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms Reply to Mandel.

P2860

Q36239035-16315C07-4FFB-4C6A-AF4F-C0EE9FFDC047 Q36556209-1DD1A401-C491-42EB-A8AF-2143329E711E Q46888969-67007974-8244-4505-9C18-66F647E2CDA9

P2860

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

Item

http://www.wikidata.org/entity/Q42930411

description

2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

2004年论文

@zh

2004年论文

@zh-cn

name

Comparative frequency of fragi ...... n X-linked mental retardation.

@en

Comparative frequency of fragile-X

@nl

type

Item

label

Comparative frequency of fragi ...... n X-linked mental retardation.

@en

Comparative frequency of fragile-X

@nl

prefLabel

Comparative frequency of fragi ...... n X-linked mental retardation.

@en

Comparative frequency of fragile-X

@nl

P1476

Comparative frequency of fragi ...... in X-linked mental retardation

@en

P2093

J L Mandel

http://www.w3.org/2001/XMLSchema#string

P2860

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Monogenic causes of X-linked mental retardation.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Screening of the ARX gene in 682 retarded males.

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.

Screening for fragile X syndrome: results from a school for mentally retarded children.

P304

730-1; author reply 731-2

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/424821

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Jean-Louis Mandel

P577

2004-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

8374916

http://www.w3.org/2001/XMLSchema#string

P698

15338463

http://www.w3.org/2001/XMLSchema#string

P932

1182066

http://www.w3.org/2001/XMLSchema#string

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

about

P2860

P2860

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932